Clinical features
Characteristically the trunk is of normal length but the limbs are very short, especially proximally - rhizomelia, and broad. The vault of the skull is enlarged. Lumbar lordosis is present. Individuals with this condition often have a small face with a nose bridge that is flat.
The limbs typically appear very broad with deep creases and trident-like hands with short fingers, along with increased joint laxity.
This condition has no effect on intelligence.
There is said to be an association with shoulder weakness.
Reference
- Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019 Jan 3;14(1)
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