Conditions / Genetic
acromesomelic dysplasia, Maroteaux type
info · Genetic
An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13.
Signs and symptoms
- Disproportionate short-limb short stature
- Short phalanx of finger
- Acromesomelia
- Short toe
- Flared metaphysis
- Redundant skin on fingers
- Broad phalanx
- Limited elbow extension
- Short nose
- Broad metacarpals
Also known as: acromesomelic dysplasia-1