acromesomelic chondrodysplasia with genital anomalies

acromesomelic chondrodysplasia with genital anomalies

A rare hereditary skeletal disorder (OMIM:609441) characterised by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal, with profoundly affected hands and feet showing brachydactyly and/or rudimentary/knob-like fingers.

Molecular pathology
BMPR1B mutations cause acromesomelic chondrodysplasia with genital anomalies.
Mentioned in ?