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Achondroplasia
Achondroplasia is a disorder of bone growth that prevents the changing of cartilage - particularly in the long bones of the arms and legs - to bone
Prevalence
Age of Onset
ICD-10
Q77.4
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Achondroplasia is the most common form of short stature
FACT
In those with the condition, the arms and legs are short, while the torso is typically of normal length
FACT
Those affected have an average adult height of 4 ft 4 in for males and 4 ft for females
FACT
Other features can include an enlarged head and prominent forehead
FACT
Achondroplasia is caused by a mutation in the FGFR3 gene that results in overactive signaling
Interest over time
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Common signs & symptoms
Bowing of the legs
Thoracolumbar kyphosis
Abnormality of the shape of the midface
Hearing impairment
Infantile muscular hypotonia
Lumbar hyperlordosis
Macrocephaly
Hypoxemia
Current treatments
Recommendations for management of children with achondroplasia were outlined by the American Academy of Pediatrics Committee on Genetics in the article, Health Supervision for Children with Achondroplasia. We recommend that you review this article with your child’s health care provider(s). These recommendations include:
Monitoring of height, weight, and head circumference using growth curves standardized for achondroplasia
Careful neurologic examinations, with referral to a pediatric neurologist as necessary
MRI or CT of the foramen magnum region for evaluation of severe hypotonia or signs of spinal cord compression
Referral to a pediatric orthopedist if bowing of the legs interferes with walking
Management of frequent middle-ear infections
Speech evaluation by age two years
Careful monitoring of social adjustment
(Brand name: Voxzogo) Manufactured by BioMarin, Inc.
Vosoritide is a C-type natriuretic peptide (CNP) analog that is given by subcutaneous injection and may be used to increase linear bone growth in children with achondroplasia with open bone growth plates (epiphyses).