Conditions / Genetic
acromesomelic dysplasia 4
info · Genetic
An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21.
Signs and symptoms
- Broad phalanx
- Rhizomelia
- Short stature
- Short metacarpal
- Short metatarsal
- Short finger
- Chronic constipation
- Hypertrichosis
- Broad finger
- Short phalanx of finger