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.

单词	acromesomelic chondrodysplasia with genital anomalies
释义	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.
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