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Achondroplasia
rareAchondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
- Identifiers
- MONDO:0007037 OMIM:100800Orphanet:15
- Causal genes
- FGFR3
- Also known as
- ACH · achondroplastic dwarfism
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