Achondroplasia

Orpha code: 15OMIM code: 100800

Definition

A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Disease data
Classification

Disease

ORPHA code
15
OMIM code
100800
ICD10 code
Q77.4
ICD11 code
LD24.00

No additional description.

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