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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