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Phenotypic Features of Achondroplasia

Specialty:

Genetics

Objective:

ICD-10:

Description:

Achondroplasia is a form of short stature associated with a genetic defect in the fibroblastic growth factor receptor 3 (FGFR3). The syndrome can often be identified based on the phenotypic findings, although it may be difficult to identify in the newborn.

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