campomelic dysplasia

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campomelic dysplasia

A rare, often lethal, autosomal dominant osteochondrodysplasia (OMIM:114290), characterised by male-to-female autosomal sex reversal in two-thirds of affected genotypic males. Bone changes seen in newborns include congenital bowing and angulation of long bones, unusually small scapulae, deformed pelvis and spine and a missing pair of ribs. Craniofacial defects, including cleft palate, micrognatia, flat face and hypertelorism, are common. Ear defects affect the cochlea, malleus incus, stapes and tympanum. Most infants die shortly after birth due to respiratory distress secondary to hypoplasia of tracheobronchial cartilage and small thoracic cage.

Molecular pathology
Defects of SOX9 cause campomelic dysplasia.