{"id":2372,"date":"2024-03-04T15:16:47","date_gmt":"2024-03-04T15:16:47","guid":{"rendered":"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/?page_id=2372"},"modified":"2025-06-10T13:29:15","modified_gmt":"2025-06-10T13:29:15","slug":"aap-tool","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-us\/achondroplasia\/aap-tool\/","title":{"rendered":"AAP Tool"},"content":{"rendered":"
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Guidance for the management of patients with achondroplasia<\/h2>\n

This interactive module\u2014adapted from the American Academy of Pediatrics\u2014is intended to provide support for\n healthcare providers to help identify individual patients at high risk of developing serious sequelae and to\n enable intervention before complications develop.<\/b><\/p>\n

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This AAP interactive module was funded by BioMarin and developed independently. This tool is not comprehensive and should be used in conjunction with the full AAP publication. This website does not provide medical advice and does not replace the need for independent research, medical judgment, or review and analysis of additional resources.\n <\/p>\n Review the full publication<\/a>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n\n

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American Academy of Pediatrics: Health Supervision for People With Achondroplasia<\/h3>\n

Select an age group from the table below to highlight that group. Scroll down to find key learnings about that\n Diagnosis\n and Management of that age group below the table.<\/p>\n\n

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Select an age group<\/h3>\n\n
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Prepregnancy for short-stature parent(s)<\/p>\n <\/div>\n

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Prenatal for short-stature and average- stature parent(s)<\/p>\n <\/div>\n

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Birth to 1 month<\/p>\n <\/div>\n

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1 month to 1 year<\/p>\n <\/div>\n

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1 to 5 years<\/p>\n <\/div>\n

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5 to 13 years<\/p>\n <\/div>\n

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13 to 21 years<\/p>\n <\/div>\n

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Adults<\/p>\n <\/div>\n <\/div>\n <\/div>\n

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Prepregnancy
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Prenatal for short-stature and average-
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Birth to
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1 month to
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Adults<\/p>\n <\/div>\n <\/div>\n <\/div>\n

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Diagnosis<\/p>\n <\/div>\n

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Physical examination<\/p>\n <\/div>\n

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ultrasonography of fetus<\/p>\n <\/div>\n

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Genetic Counseling<\/p>\n <\/div>\n

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Review natural history<\/p>\n <\/div>\n

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of potential offspring<\/p>\n <\/div>\n

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Recurrence risk and genetics<\/p>\n <\/div>\n

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Delivery mode and location<\/p>\n <\/div>\n

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Medical Evaluation<\/p>\n <\/div>\n

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Growth (height or length, weight, occipitofrontal circumference)<\/p>\n <\/div>\n

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Neurologic examination<\/p>\n <\/div>\n

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Development<\/p>\n <\/div>\n

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Neuroimaging<\/p>\n <\/div>\n

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Polysomnography<\/p>\n <\/div>\n

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Hearing assessment<\/p>\n <\/div>\n

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Radiography for kyphosis, genu varus, bowing<\/p>\n <\/div>\n

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Anticipation or Guidance<\/p>\n <\/div>\n

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Warning signs of severe complications<\/p>\n <\/div>\n

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Car seats<\/p>\n <\/div>\n

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Achondroplasia-specific development<\/p>\n <\/div>\n

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Job training<\/p>\n <\/div>\n

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Select an age group<\/p>\n <\/div>\n

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Prepregnancy
for short-
stature
parent(s)<\/p>\n <\/div>\n

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Prenatal for short-stature and average-
stature
parent(s)<\/p>\n <\/div>\n

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Birth to
1 month<\/p>\n <\/div>\n

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1 month to
1 year<\/p>\n <\/div>\n

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1 to 5
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5 to 13
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13 to 21
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Adults<\/p>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n

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Prepregnancy for short-stature parent(s)<\/h3>\n\n
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Diagnosis, Genetic Counseling<\/p>\n <\/div>\n

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Prenatal consultation involving a couple in which one or both carry a skeletal dysplasia diagnosis and\n are seeking\n genetic counseling and anticipatory guidance is best arranged before pregnancy. Typically, this visit\n would be with a\n medical geneticist or genetic counselor. In this scenario, there is ample time to confirm the parental\n dysplasia\n diagnoses and evaluate the woman (if she is short stature) for neuraxial complications or previous\n surgical procedures, which could influence anesthesia\n options for delivery (ie, general versus spinal or epidural).<\/p>\n

Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n <\/div>\n <\/div>\n

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Prenatal for short-stature and average-stature parent(s)<\/h3>\n\n
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Diagnosis, Genetic Counseling<\/p>\n <\/div>\n

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  1. Review, confirm, and demonstrate laboratory or imaging studies leading to the diagnosis.<\/li>\n
  2. Explain the mechanisms for occurrence of achondroplasia in the fetus and the recurrence risk for the\n family, depending on the\n presence of a dysplasia in both, one, or neither of the parents.<\/li>\n
  3. Explain that up to 80% of patients with achondroplasia are born to average-stature parents. In these\n affected children, their\n achondroplasia occurred because of a spontaneous pathogenic variant* in the FGFR3 gene. In this\n situation, recurrence\n risk is empirically approximately 1% for future pregnancies for this specific couple because of the\n possibility of gonadal mosaicism.<\/li>\n
  4. Review the natural history and manifestations of achondroplasia, including variability.<\/li>\n <\/ol>\n

    Access the full AAP publication here<\/a>.<\/p>\n

    *Previously recognized as a mutation causing a disease or specific diagnosis.<\/p>\n <\/div>\n

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    Medical Evaluation<\/p>\n <\/div>\n

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    1. Discuss additional studies that could be performed in the newborn period to confirm the diagnosis (eg,\n blood test for mutation in FGFR3, radiographs to review for achondroplasia-specific features). If\n miscarriage, stillbirth, or termination occurs, confirmatory testing is important if the woman or family\n desires optimal genetic counseling. If specific molecular testing cannot be offered immediately, try to\n secure a blood or tissue sample for future testing.<\/li>\n <\/ol>\n

      Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n

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      Anticipatory Guidance<\/p>\n <\/div>\n

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      1. Review currently available treatments and interventions, including efficacy, complications, adverse\n effects, costs, and other burdens of these treatments. Discuss possible future treatments and\n interventions. Please see the medical evaluation and anticipatory guidance discussions in the sections\n on health supervision for children ages 1 month to 1 year, 1 to 5 years, and 5 to 13 years.<\/li>\n
      2. Explore the options available to the family for the management and rearing of the child by using a\n nondirective approach. In cases of early prenatal diagnosis, discuss continuation of pregnancy and\n rearing the child at home, as well as foster care, adoption, or termination.<\/li>\n
      3. If the pregnant woman carries the diagnosis of achondroplasia, inform her that a cesarean delivery\n will be necessary because of the characteristic small pelvis and cephalopelvic disproportion (regardless\n of whether the fetus is average stature or has achondroplasia also and, therefore, macrocephaly).\n Prenatal consultation with a high-risk maternal or fetal medicine specialist is recommended to\n investigate whether general anesthesia or spinal or epidural anesthesia will be needed for delivery. In\n an average-stature pregnant woman carrying a fetus with achondroplasia, a cesarean delivery may also,\n but not always, be necessary because of fetal macrocephaly.<\/li>\n
      4. Establish where the infant with the suspected (or possible) skeletal dysplasia diagnosis will be\n delivered. Pediatric services to manage potential medical complications at or shortly after delivery may\n be necessary and are not available at all hospitals.<\/li>\n
      5. When both parents are of disproportionate short stature, assess the possibility of the fetus\n inheriting both conditions. Infants with homozygous achondroplasia may not survive pregnancy or\n delivery, die shortly after birth, or survive but with specific, prolonged medical intervention and the\n presence of neurologic compromise.<\/li>\n
      6. Be aware that many of these discussions will be coordinated with the prenatal team, including a\n medical geneticist, genetic counselor, and\/or maternal-fetal medicine specialist. The importance of a\n knowledgeable medical home for the expected infant should be reviewed.<\/li>\n <\/ol>\n

        Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n <\/div>\n <\/div>\n

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        Birth to 1 month<\/h3>\n\n
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        Diagnosis, Genetic Counseling<\/p>\n <\/div>\n

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        1. Confirm the diagnosis by genetic testing and\/or radiographic studies in the newborn period. External\n physical features may not be highly obvious for achondroplasia. Radiographs should include\n anteroposterior and lateral skull, anteroposterior and lateral cervical spine, anteroposterior and\n lateral chest and abdomen with pelvis and upper femurs, anteroposterior of each upper and lower\n extremity long bone, and anteroposterior of hands and feet separate from long bones. Molecular studies\n may be pursued if desired.<\/li>\n
        2. Discuss genetics of achondroplasia with the parents, including the following:<\/li>\n
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          1. Autosomal dominant inheritance: Any person with achondroplasia will have a 50% chance of passing\n this condition on to each offspring, regardless of the sex of the parent and child.<\/li>\n
          2. Approximately 80% of children born with achondroplasia represent spontaneous new mutations in the\n FGFR3<\/em> gene.\n <\/li>\n
          3. Germ-line mosaicism has been reported in families with achondroplasia. This means that 2\n average-stature parents have had more than 1 child with achondroplasia attributable to gonadal\n mosaicism. The recurrence risk of achondroplasia in sporadic cases via gonadal mosaicism is\n approximately 1%.<\/li>\n
          4. Recurrence risk when both parents have a skeletal dysplasia diagnosis should also be reviewed.<\/li>\n <\/ol>\n
          5. Recognize the potential psychosocial implications for both parent and child related to short stature.\n <\/li>\n
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            1. Refer the family to a support group.<\/li>\n
            2. If parents do not wish to join a group, offer meeting individually with other affected individuals\n or parents.<\/li>\n
            3. Discuss how they will tell their family and friends about their child\u2019s diagnosis.<\/li>\n
            4. Refer to other support resources, such as clergy, social workers, and psychologists.<\/li>\n
            5. Remind parents that most people with achondroplasia lead productive, independent lives.<\/li>\n
            6. Supply the parents with educational books and pamphlets (http:\/\/www.lpaonline.org\/).<\/li>\n
            7. Discuss the realistic functional challenges for affected individuals.<\/li>\n <\/ol>\n <\/ol>\n

              Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n

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              Medical Evaluation<\/p>\n <\/div>\n

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              1. Measure and plot total body length, weight, and occipitofrontal circumference on\n achondroplasia-specific growth charts at birth and every health supervision visit. Review these growth\n parameters with both parents.<\/li>\n
              2. Use achondroplasia-specific developmental charts at every health supervision visit.<\/li>\n
              3. Assess every infant with achondroplasia for craniocervical junction risks as soon as the diagnosis is\n recognized via the following:<\/li>\n
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                1. Careful neurologic history and examination. This includes inquiry about feeding ability, choking or\n gagging with feeding, prolonged apnea while sleeping, cyanosis of lips or mouth with feeding or\n sleeping, symmetry of limb movements, and axial and appendicular tone.<\/li>\n
                2. Polysomnography (overnight sleep study, evaluated by a pediatric pulmonologist, including end tidal\n carbon dioxide in addition to standard measures of apnea, hypopnea, saturation) to assess for unusual\n central apnea.<\/li>\n
                3. Neuroimaging, provided it can be performed safely. If abnormalities suggestive of craniocervical\n compromise are detected in the medical history, neurologic examination, or sleep study, then\n neuroimaging is indicated. Neuroimaging should not be used in isolation to determine when or whether\n surgery is indicated.<\/li>\n <\/ol>\n
                4. Consider the pros and cons of the neuroimaging options:<\/li>\n
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                  1. Computed tomography with thin cuts and bone windows:<\/li>\n
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                    1. Can compare foramen magnum size with published achondroplasia norms.<\/li>\n
                    2. May be possible without sedation.<\/li>\n
                    3. Does not provide adequate images of brainstem and upper cervical cord to determine if there is\n neural compromise, signaling change.<\/li>\n <\/ol>\n
                    4. MRI:<\/li>\n
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                      1. Provides direct assessment of the brainstem and upper cervical spinal cord, but no standards for\n estimation of foraminal size by MRI are currently available.<\/li>\n
                      2. May require general anesthesia if fast MRI protocol is not used or available. General anesthesia\n should only be performed in a clinical setting in which a pediatric anesthesiologist, nurse\n anesthetist, or other airway specialist is present to manage the procedure. Often, a newborn infant\n can be wrapped and scanned while asleep without sedation or anesthesia, particularly when a faster\n magnetic resonance scanner is available.<\/li>\n
                      3. Evidence that flexion or extension of the cervical spine during MRI may reveal dynamic cord\n compression and alteration of cerebrospinal fluid (CSF) flow in achondroplasia, which is a better\n indicator of the need for surgical intervention.<\/li>\n <\/ol>\n <\/ol>\n
                      4. Refer in a timely manner to experienced neurosurgical specialist if any of the following are detected\n during the aforementioned craniocervical junction assessment:<\/li>\n
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                        1. Abnormal neurologic examination marked by hypotonia or \u201cfloppiness,\u201d weakness, sustained lower\n extremity clonus, asymmetric reflexes, or choking or gagging with eating.<\/li>\n
                        2. Poor weight gain on achondroplasia-specific growth charts, especially if caloric intake and\/or\n infant feeding is sufficient.<\/li>\n
                        3. Sleep study showing hypoxemic episodes with oxygen saturation <85% and\/or central apnea beyond\n that expected in an average-stature, healthy newborn infant.<\/li>\n
                        4. Imaging showing markedly smaller foramen magnum size, substantial deformation of the upper cervical\n spinal cord, or lack of CSF around the spinal cord.<\/li>\n <\/ol>\n
                        5. Establish care with a pediatric orthopedist to monitor the spine.<\/li>\n
                        6. Confirm newborn screening hearing result and follow-up failed screening results with formal audiology\n assessment.<\/li>\n <\/ol>\n

                          Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n

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                          Anticipatory Guidance<\/p>\n <\/div>\n

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                          1. Discuss the following possible severe medical complications and methods of prevention:<\/li>\n
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                            1. Unexpected infant death occurs in 2% to 5% of all infants with achondroplasia if aggressive, early\n assessments are not pursued to detect central apnea resulting from compression of the brainstem and\n arteries at the level of the foramen magnum.<\/li>\n
                            2. The universally small foramen magnum may result in a high cervical myelopathy, also detectable by\n the aforementioned early assessments.<\/li>\n
                            3. Macrocephaly with excessive extra-axial fluid and asymptomatic ventriculomegaly is a normal feature\n of achondroplasia but may be complicated by hydrocephalus.<\/li>\n
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                              1. Should head circumference increase unexpectedly on an achondroplasia-specific curve, the\n fontanelle bulge or become hard to palpation, or lethargy, irritability, poor weight gain, or marked\n developmental delay occur, the imaging and potential referral to a neurosurgical specialist is\n indicated.<\/li>\n
                              2. Benign extra-axial fluid and asymptomatic ventriculomegaly visualized by MRI should not be\n misinterpreted as indicative of need for shunt placement.<\/li>\n <\/ol>\n
                              3. Restrictive pulmonary disease occurs in less than 5% of children with achondroplasia who are younger\n than 3 years. Living at high elevation may exacerbate pulmonary complications as in average-stature\n individuals. Obstructive pulmonary disease is much more common and warrants systematic assessment.\n <\/li>\n <\/ol>\n
                              4. Be aware that most infants with achondroplasia develop thoracolumbar kyphosis. More severe kyphosis is\n associated with unsupported sitting before there is adequate trunk muscle strength and tone.\n Developmental delays in motor skill acquisition (compared with other children with achondroplasia) have\n been observed to be highly associated with progression of thoracolumbar kyphosis.<\/li>\n
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                                1. Back support should be provided during bottle and\/or breastfeeding.<\/li>\n
                                2. Unsupported sitting and devices that cause curved sitting or \u201cC sitting,\u201d such as \u201cumbrella-style\u201d\n strollers and soft canvas seats, should be avoided during the first year of life.<\/li>\n
                                3. Care with a pediatric orthopedist should be established to monitor the spine.<\/li>\n <\/ol>\n
                                4. Be aware that the common complication of spinal stenosis rarely occurs in childhood but manifests in\n older individuals with numbness, weakness, and altered deep tendon reflexes. Severe thoracolumbar\n kyphosis can greatly exacerbate spinal stenosis; thus, the recommendation is to avoid unsupported\n sitting before there is adequate trunk muscle strength and tone.<\/li>\n
                                5. Advise parents to use an infant seat or infant carrier that has a firm back (not excessive padding) to\n support the neck and to use a rear-facing car safety seat for as long as possible.<\/li>\n
                                    \n
                                  1. Car seat laws vary by state (and country) as to the age, weight, and\/or height of a child required\n to convert their seat to forward-facing. Inquire with local experts (eg, police, hospital, or fire\n station where car seat installation clinics are offered) or online motor vehicle administration.<\/li>\n
                                  2. Infants should not sleep unattended in car seats; this is especially important in those with\n achondroplasia because decreased axial tone and strength in combination with the large head creates\n great risk of craniocervical and airway compromise.<\/li>\n <\/ol>\n
                                  3. Avoid use of products like mechanical swings and carrying slings to limit uncontrolled head movement\n around the small foramen magnum. There is a risk of death if the cervicomedullary junction is\n compromised, even in infants in which there were no signs of abnormal neurologic status. Always support\n the head and neck with the caregiver\u2019s hand, minimizing flexion and extension (also known as head\n bobbling).<\/li>\n
                                  4. Advise parents that normal intelligence is expected.<\/li>\n
                                  5. Advise parents that overall, people with achondroplasia have fairly normal life expectancy. However,\n the following should be noted:<\/li>\n
                                      \n
                                    1. Wynn et al demonstrated 10-year earlier mortality.<\/li>\n
                                    2. Longitudinal studies are required to determine the cause for this, but serious problems may occur\n during infancy (eg, cervicomedullary compression, central sleep apnea), as noted.<\/li>\n <\/ol>\n
                                    3. Inform parents that growth hormone and vitamin supplements are not effective in significantly\n increasing stature. Growth hormone may cause a temporary increase in growth velocity, but little to no\n significant increase in end height has been shown.<\/li>\n
                                    4. Discuss the availability of extended limb lengthening using a variety of surgical techniques, which\n can result in an increase in ultimate height.<\/li>\n
                                        \n
                                      1. This is a long process with high cost and associated physical pain and can have postoperative\n adverse effects.<\/li>\n
                                      2. If a family undertakes this procedure, it is critical that the affected child and parents have\n discussed this at great length and that they are in agreement that proceeding with this surgery is the\n appropriate decision for them.<\/li>\n
                                      3. If pursued, it should be completed at a well-established surgical center with experience and the\n capability to manage these patients long-term for complications.<\/li>\n <\/ol>\n
                                      4. Inform parents that the final expected adult height for people with achondroplasia is approximately\n 120 to 135 cm (4\u20134.5 ft).<\/li>\n
                                      5. If an individual with achondroplasia requires anesthesia and surgery, consider the following:<\/li>\n
                                          \n
                                        1. Care should be taken in manipulation of the neck because uncontrolled neck movement (as may occur\n with intubation) could lead to unintentional spinal cord compression secondary to constriction of the\n foramen magnum.<\/li>\n
                                        2. Medication should be dosed for patient size, not age.<\/li>\n
                                        3. Venous access may be more difficult because of incomplete elbow extension.<\/li>\n
                                        4. In general, spinal or epidural anesthesia should be avoided unless neuroimaging reveals adequate\n space inside the spinal canal and there are no signs of neurologic compromise.<\/li>\n <\/ol>\n <\/ol>\n

                                          Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n <\/div>\n <\/div>\n

                                          \n

                                          1 month to 1 year<\/h3>\n\n
                                          \n
                                          \n

                                          Diagnosis, Genetic Counseling<\/p>\n <\/div>\n

                                          \n
                                            \n
                                          1. For infants not diagnosed in the newborn period, confirm diagnosis by radiographs and physical\n examination and offer molecular confirmation, if desired.<\/li>\n
                                          2. Inquire about personal support available to the family.<\/li>\n
                                          3. Inquire about contact with support groups.<\/li>\n
                                          4. Observe the emotional status of parents and intrafamily relationships.<\/li>\n
                                          5. Discuss the importance of normal socializing experiences with other children.<\/li>\n
                                          6. Review genetics of achondroplasia as outlined in the Birth to 1 Month section, as needed.<\/li>\n
                                          7. Ask the parents whether they have educated their family members about achondroplasia and offer resources to advocacy groups or local genetic counselors; discuss sibling adjustment.<\/li>\n <\/ol>\n

                                            Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n

                                            \n

                                            Medical Evaluation<\/p>\n <\/div>\n

                                            \n
                                              \n
                                            1. Assess growth (length, weight, head circumference) and development only in comparison with children\n with achondroplasia.<\/li>\n
                                            2. Perform physical examination, including neurologic examination.<\/li>\n
                                            3. Check motor development and discuss development; note on the milestone charts for achondroplasia.\n Expect motor delay as compared with average-stature, age-matched children but not social or cognitive\n delay.<\/li>\n
                                            4. For infants not diagnosed in the newborn period, arrange for polysomnography and neuroimaging at the\n time of diagnosis.<\/li>\n
                                            5. Refer the infant to a pediatric neurologist or pediatric neurosurgeon if any of the following are\n present:<\/li>\n
                                                \n
                                              1. Head circumference disproportionately large for length and weight on achondroplasia-specific curves\n or head circumference crossing percentiles.<\/li>\n
                                              2. Fontanelle bulging or becoming hard to palpation.<\/li>\n
                                              3. Abnormal neurologic examination marked by hypotonia or \u201cfloppiness,\u201d lethargy, irritability,\n weakness, sustained lower extremity clonus, asymmetric reflexes, choking or gagging with eating, or\n early hand preference, which may be attributable to hydrocephalus or craniocervical junction\n compromise.<\/li>\n
                                              4. Poor weight gain on achondroplasia-specific growth charts, especially if caloric intake is\n sufficient.<\/li>\n
                                              5. Polysomnography showing hypoxemic episodes with oxygen saturation lower than 85% and\/or central\n apnea beyond that expected in an average-stature, healthy infant.<\/li>\n
                                              6. Imaging showing marked smaller foramen magnum size, substantial deformation of the upper cervical\n spinal cord, or lack of CSF around spinal cord.<\/li>\n <\/ol>\n
                                              7. Check for serous otitis media. Formal behavioral audiometric assessment should be completed by 9 to 12\n months of age and managed as part of routine health care for patients with achondroplasia, ideally on an\n annual basis. Language delay may be present secondary to conductive hearing loss.<\/li>\n
                                              8. Continue to monitor for progression of kyphosis at the thoracolumbar junction.<\/li>\n
                                                  \n
                                                1. Parents and therapists (if used) should be instructed to provide back support during the first year\n of life.<\/li>\n
                                                2. Avoid unsupported sitting and devices that cause curved sitting or \u201cC sitting,\u201d such as\n \u201cumbrella-style\u201d strollers and soft canvas seats, during the first year of life.<\/li>\n
                                                3. Position the infant for feeding with a straight back and head and neck in alignment, supported by\n firm pillows; a feeder seat may be a good option.<\/li>\n
                                                4. Mild, mobile (nonfixed) thoracolumbar kyphosis will often improve or resolve when the child begins\n to walk.<\/li>\n
                                                5. If severe kyphosis appears to be developing, seek pediatric orthopedic assessment to determine if\n bracing is needed. Rarely, surgical intervention may be necessary.<\/li>\n <\/ol>\n <\/ol>\n

                                                  Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n

                                                  \n

                                                  Anticipatory Guidance<\/p>\n <\/div>\n

                                                  \n
                                                    \n
                                                  1. Discuss early intervention services if needed while utilizing achondroplasia-specific developmental\n charts to assess if any deficits are present. Motor skill acquisition may be slower than in\n average-stature peers, but may not necessitate intervention.<\/li>\n
                                                  2. Review the increased risk of serous otitis media because of short eustachian tubes. Indicate that an\n ear examination is appropriate with any persistent or severe upper respiratory tract infection or when\n parents suspect that ear pain may be present.<\/li>\n
                                                  3. Recommend annual audiology assessment as part of routine health care for patients with achondroplasia.\n <\/li>\n
                                                  4. There is a risk of jugular bulb dehiscence (absence of the temporal bone \u201croof\u201d over the jugular bulb)\n in patients with achondroplasia. This malformation predisposes to accidental puncture of the jugular\n bulb during tympanostomy tube placement.<\/li>\n
                                                  5. Avoid infant carriers and seated positions that \u201ccurl up\u201d the infant or young child and avoid\n prolonged unsupported sitting.<\/li>\n
                                                  6. Advise parents to use an infant seat or infant carrier that has a firm back (reduced padding) to\n support the neck and to use a rear-facing car safety seat for as long as possible.<\/li>\n
                                                      \n
                                                    1. Car seat laws vary by state (and country), so inquiry with local experts (eg, police, hospital, or\n fire station where car seat installation clinics are offered) or online motor vehicle administration\n is recommended.<\/li>\n
                                                    2. Infants should not sleep unattended in car seats; this is especially important in those with\n achondroplasia because decreased axial tone and strength in combination with the large head creates\n great risk of craniocervical and airway compromise.<\/li>\n <\/ol>\n
                                                    3. Be aware that external rotation of the hips is commonly present and usually disappears spontaneously\n when the child begins to bear weight. This finding does not require bracing for the infant.<\/li>\n
                                                    4. Discuss the option of filing for Supplemental Security Income benefits as appropriate.<\/li>\n <\/ol>\n

                                                      Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n <\/div>\n <\/div>\n

                                                      \n

                                                      1 to 5 years<\/h3>\n\n
                                                      \n
                                                      \n

                                                      Diagnosis, Genetic Counseling<\/p>\n <\/div>\n

                                                      \n
                                                        \n
                                                      1. Review genetics of achondroplasia as outlined in the Birth to 1 Month section, as needed.<\/li>\n
                                                      2. Inquire about contact with support groups.<\/li>\n <\/ol>\n

                                                        Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n

                                                        \n

                                                        Medical Evaluation<\/p>\n <\/div>\n

                                                        \n
                                                          \n
                                                        1. Assess growth (length or height, weight, head circumference) and development in comparison only with\n children with achondroplasia.<\/li>\n
                                                        2. Assess BMI or weight for length on achondroplasia-specific charts.<\/li>\n
                                                        3. Perform physical examination, including neurologic examination.<\/li>\n
                                                        4. Check motor development and discuss development; note on the milestone charts for achondroplasia.\n Expect motor delay as compared with average-stature, age-matched children but not social or cognitive\n delay.<\/li>\n
                                                        5. Continue to monitor for thoracolumbar kyphosis. Any kyphosis present should resolve as the child\n begins to bear weight. Lumbar lordosis usually develops but rarely requires specific intervention.\n Weight bearing and walking may occur late; however, they are expected by 2 to 2.5 years of age. When\n weight bearing egins, the external rotation of the hips should self-correct to a normal orientation\n within 6 months.<\/li>\n
                                                        6. Anticipate some bowing of the legs. Many children will also have instability of the soft tissues\n surrounding the knee and internal tibial torsion. If positional deformity and instability leads to\n difficulty walking, a thrust at the knee (uncontrolled lateral or medial movement with weight bearing),\n or chronic pain, consult a pediatric orthopedist.<\/li>\n
                                                        7. Check the child\u2019s hips for hip flexion contractures. Refer to physical therapy or pediatric\n orthopedics for exercise recommendation to decrease lumbar lordosis and hip flexion contractures if\n indicated. Stretching of the hip is performed gently so as not to cause subluxation.<\/li>\n
                                                        8. Ensure that the patient has an audiology assessment every year in conjunction with establishment of\n care with an otolaryngologist.<\/li>\n
                                                        9. Ensure that the patient has a speech evaluation at no later than 2 years of age. If speech is delayed,\n conductive hearing loss attributable to chronic serous otitis media should be excluded.<\/li>\n
                                                        10. Because most children with achondroplasia snore, monitor closely for signs of obstructive sleep apnea\n (increased retraction, glottal stops, choking, intermittent breathing, apnea, deep compensatory sighs,\n secondary enuresis, recurrent nighttime awakening or emesis). If obstructive sleep apnea is suspected,\n then pulmonary consultation and polysomnography are indicated.<\/li>\n
                                                        11. Be aware that gastroesophageal reflux disease may be more common in children with achondroplasia and\n may be more common in those with neurorespiratory complications. In addition to usual treatments for\n gastroesophageal reflux disease, consider referral to a pediatric gastroenterologist or pulmonologist.\n <\/li>\n
                                                        12. Do not misinterpret greater-than-average sweating as indicative of serious medical problems; it is\n normal in many children with achondroplasia, particularly while sleeping. But if there is sweating with\n eating or the sweating increases dramatically while sleeping and airway obstruction is observed,\n consider further evaluation with a sleep study.<\/li>\n
                                                        13. In rare instances in which diagnosis of achondroplasia is delayed beyond 1 year of age, arrange for\n polysomnography for all individuals and neuroimaging on the basis of clinical signs and symptoms\n concerning for craniocervical compression, as discussed previously.<\/li>\n <\/ol>\n

                                                          Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n

                                                          \n

                                                          Anticipatory Guidance<\/p>\n <\/div>\n

                                                          \n
                                                            \n
                                                          1. Consider adapting the home so that the child can become independent (eg, lower the light switches, use\n lever door handles and lever sink faucets, make the toilet accessible, and supply step stools).\n Determine if an occupational therapy consultation is needed to help adapt the home.<\/li>\n
                                                          2. Discuss adapting age-appropriate clothing with snapless, easy-opening fasteners and tuckable loops\n because children with achondroplasia have smaller fingers and shorter arms. Determine if an occupational\n therapy consultation is needed.<\/li>\n
                                                          3. Discuss adaptation of toys, such as tricycles, to accommodate short limbs.<\/li>\n
                                                          4. Discuss adaptation of toilets to allow comfortable, independent use. An extended wand for wiping is\n rarely needed in this age group, provided surgical spinal fusion has not been performed. Discuss\n toileting at school and special preparations needed by the school because of the child\u2019s short stature.\n <\/li>\n
                                                          5. Discuss the use of a stool during sitting so that the child\u2019s feet are not hanging. Feet need support\n while the child is sitting at a desk, in a chair, or on the toilet. A cushion behind the child\u2019s back\n may be required for good posture and to prevent chronic back pain.<\/li>\n
                                                          6. Counsel parents for optimal protection to use a convertible rear-facing car safety seat to the highest\n weight and height allowed by the manufacturer of the seat. A rear-facing seat provides the best support\n protection and positioning angle for a child with macrocephaly and skeletal dysplasia.<\/li>\n
                                                          7. Review weight control and eating habits to avoid obesity, which often becomes a problem in mid to late\n childhood and through adulthood.<\/li>\n
                                                          8. Discuss orthodontic bracing and the potential need for palatal expansion in the future.<\/li>\n
                                                          9. Encourage all physical activities in which the child can participate safely. All children should avoid\n trampolines and high- impact, body-contact, and collision sports.<\/li>\n
                                                          10. Discuss how to talk with the child and friends or family members about short stature.<\/li>\n
                                                          11. Encourage preschool attendance so that the child can learn to socialize in an age-appropriate way, and\n work with parents to prepare the teacher and the other children so that the child is treated in an\n age-appropriate manner (ie, not dictated by the child\u2019s height).<\/li>\n <\/ol>\n

                                                            Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n <\/div>\n <\/div>\n

                                                            \n

                                                            5 to 13 years<\/h3>\n\n
                                                            \n
                                                            \n

                                                            Diagnosis, Genetic Counseling<\/p>\n <\/div>\n

                                                            \n
                                                              \n
                                                            1. Review genetics of achondroplasia as outlined in the Birth to 1 Month section, as needed.<\/li>\n
                                                            2. Inquire about contact with support groups. They are especially useful at this age.<\/li>\n <\/ol>\n

                                                              Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n

                                                              \n

                                                              Medical Evaluation<\/p>\n <\/div>\n

                                                              \n
                                                                \n
                                                              1. Assess growth (height, weight, head circumference) and development in comparison only with children\n with achondroplasia.<\/li>\n
                                                              2. Review weight control. Encouraging and maintaining physical activity with dietary intake is important.\n <\/li>\n
                                                              3. Complete a general and neurologically oriented physical examination.<\/li>\n
                                                              4. Check deep tendon reflexes yearly for asymmetry or increased reflexes that suggest spinal stenosis.\n <\/li>\n
                                                              5. Continue to assess history for possible obstructive sleep apnea (increased retraction, glottal stops,\n choking, intermittent breathing, apnea, deep compensatory sighs, secondary enuresis, recurrent nighttime\n awakening or emesis). If obstructive sleep apnea is suspected, then pulmonary consultation and\n polysomnography are indicated.<\/li>\n
                                                              6. Ensure that formal hearing assessment is conducted as part of annual health maintenance for patients\n with achondroplasia, with ear, nose, and throat follow-up should problems be identified.<\/li>\n
                                                              7. Assess for pain and its effects on activities of daily living and desired physical activity.<\/li>\n <\/ol>\n

                                                                Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n

                                                                \n

                                                                Anticipatory Guidance<\/p>\n <\/div>\n

                                                                \n
                                                                  \n
                                                                1. Determine school readiness.<\/li>\n
                                                                2. Discuss preparation of the school and teacher for a child with short stature. Suggest adaptive aids\n for the school to cope with heavy doors, high doorknobs, reaching for the blackboard, foot support, and\n a regular-sized desk. Also, be sure that the child can use the restroom independently.<\/li>\n
                                                                3. Prepare the child for the questions and curiosity of others.<\/li>\n
                                                                4. Assure the parents that children with achondroplasia usually are included in the regular education\n program.<\/li>\n
                                                                5. Counsel parents to use a child safety seat with a full harness to the highest weight allowed by the\n manufacturer of the seat and then to transition to the belt-positioning booster seat for optimal\n seatbelt positioning.<\/li>\n
                                                                6. Review socialization and foster independence.<\/li>\n
                                                                7. Maintain orthopedic surveillance every 1 to 2 years or sooner, if problems occur.<\/li>\n
                                                                8. Emphasize supported sitting in school desks and while doing homework to avoid kyphosis.<\/li>\n
                                                                9. Develop an activity program with acceptable activities, such as swimming and biking. The child should\n avoid competitive gymnastics and collision sports because of the potential for neurologic complications\n secondary to cervical spinal stenosis.<\/li>\n
                                                                10. Review orthodontic and speech status.<\/li>\n <\/ol>\n

                                                                  Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n <\/div>\n <\/div>\n

                                                                  \n

                                                                  13 to 21 years<\/h3>\n\n
                                                                  \n
                                                                  \n

                                                                  Diagnosis, Genetic Counseling<\/p>\n <\/div>\n

                                                                  \n
                                                                    \n
                                                                  1. Discuss the diagnosis with the adolescent to be sure that he or she has the vocabulary and the\n understanding of the genetic nature of achondroplasia.<\/li>\n
                                                                  2. Discuss contraception. Tailored to the maturity and sexual activity of the adolescent or young adult,\n review recurrence risk counseling with the patient, as outlined in the Prenatal Visit section\n previously. Ideally, discussions about prenatal testing, pregnancy, and delivery are conducted before\n conception occurs.<\/li>\n
                                                                  3. Continue to encourage participation in social activities and support groups.<\/li>\n
                                                                  4. Per the published AAP guidelines for adolescent health, proceed with discussions regarding smoking,\n drug use, alcohol use, sexual activity, gender identity, exposure to weapons, food and shelter security,\n and a focus on bullying and psychological health.<\/li>\n <\/ol>\n

                                                                    Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n

                                                                    \n

                                                                    Medical Evaluation<\/p>\n <\/div>\n

                                                                    \n
                                                                      \n
                                                                    1. Continue to record growth parameters.<\/li>\n
                                                                    2. Review weight control and diet. Encouraging and maintaining physical activity with dietary intake is\n necessary.<\/li>\n
                                                                    3. Complete a general and neurologically oriented physical examination. Monitor for any signs or symptoms\n of nerve compression and check deep tendon reflexes, tone, and sensory findings.<\/li>\n
                                                                    4. Continue to assess for possible obstructive sleep apnea and obtain polysomnography on the basis of\n symptoms.<\/li>\n
                                                                    5. Formal hearing assessment is recommended as part of routine health care for patients with\n achondroplasia, ideally on an annual basis.<\/li>\n
                                                                    6. Assess for pain and its effects on activities of daily living and desired physical activity.<\/li>\n <\/ol>\n

                                                                      Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n

                                                                      \n

                                                                      Anticipatory Guidance<\/p>\n <\/div>\n

                                                                      \n
                                                                        \n
                                                                      1. Check on social adaptation. Foster independence.<\/li>\n
                                                                      2. Review orthodontic status.<\/li>\n
                                                                      3. Continue weight counseling.<\/li>\n
                                                                      4. Encourage the family and affected patient to set career and life goals high and appropriate, as for\n other members of the family.<\/li>\n
                                                                      5. Discuss college, vocational planning and training, and other plans after high school.<\/li>\n
                                                                      6. Discuss driving. A driver\u2019s license is obtainable. Drivers usually require a vehicle that is adapted\n with pedal extenders; extenders that can be easily mounted and removed as needed are available.\n Consultation with a local driver rehabilitation specialist or the Association for Driver Rehabilitation\n Specialists (http:\/\/www.aded.net\/; phone 866-672-9466) may be helpful if vehicle modifications are\n needed. Individuals who want to have an air bag on-off switch must read an informational brochure and\n submit an official request to the National Highway Traffic Safety Administration (1-888-327-4236;\n www.nhtsa.gov).<\/li>\n
                                                                      7. Assist in transition to adult health care.<\/li>\n <\/ol>\n

                                                                        Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n <\/div>\n <\/div>\n

                                                                        \n

                                                                        Adults<\/h3>\n\n
                                                                        \n
                                                                        \n

                                                                        GENERAL GUIDANCE<\/p>\n <\/div>\n

                                                                        \n

                                                                        Health supervision for adults with achondroplasia, which includes genetic counseling, medical concerns\n and surveillance, and anticipatory guidance, is multifaceted. Health supervision requires specific\n management recommendations based on the scope of the disease and symptomatology of the patient. Several of\n the key features that should be addressed in adulthood are included in the Prenatal Visit section for\n short-stature adults and noted in the table.<\/p>\n

                                                                        Access the full AAP publication here<\/a>.<\/p>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":6,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-2372","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nAchondroplasia Patient Management Guidance Tool -BioMarin<\/title>\n<meta name=\"description\" content=\"View our achondroplasia AAP patient guidance tool to get an overview of varying age groups as it relates to diagnosis, genetic counseling and evaluation.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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