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Achondroplasia
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Achondroplasia

Other Resources UpToDate PubMed

Synopsis

A form of short-limb dwarfism caused by sporadic or inherited mutation in the FGFR3 gene. At birth, patients exhibit short limbs, a long torso, large head with a prominent forehead, and hands with trident configuration. Developmental delay of motor milestones is common during infancy, though intelligence is typically normal and lifespan is near normal. Joint hypermobility and lumbar lordosis are common. Complications of achondroplasia include dental crowding, obesity, spinal cord compression, apnea, recurrent otitis media, and hydrocephalus. Early studies have shown vosoritide, a biologic analogue of C-type natriuretic peptide, is effective in increasing growth velocity in patients with achondroplasia. Side effects were mild and mainly included injection-site reactions.

For more information, see OMIM.

Codes

ICD10CM:
Q77.4 – Achondroplasia

SNOMEDCT:
86268005 – Achondrogenesis

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Last Updated:07/18/2019
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Achondroplasia
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Achondroplasia : Hearing loss, Hypotonia, Lumbar lordosis, Short stature
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