Achondroplasia
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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.
Codes
ICD10CM:
Q77.4 – Achondroplasia
SNOMEDCT:
86268005 – Achondrogenesis
Q77.4 – Achondroplasia
SNOMEDCT:
86268005 – Achondrogenesis
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Last Updated:01/11/2022
Achondroplasia