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Definition

A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females.

Acronym

CMD1

Synonyms

Acampomelic campomelic dysplasia
Acampomelic campomelic dysplasia with autosomal sex reversal
Campomelic dysplasia with autosomal sex reversal
Camptomelic dysplasia
CMPD
CMPD1
CMPD1/SRA1