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.
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2001), five primers for Colossoma macropomum (CmA8, CmA11, CmC8, CmD1, CmE3) (SANTOS et al., 2009), and seven primers for the genus Prochilodus, of which six were for P.
Three high voltage safety controller commands to manage the output of high voltage: WUP, CMD1, and CMD2.
2001); 10 primers of the tambaqui (Colossoma macropomum): CmA8, CmA11, CmB8, CmC8, CmD1, CmE3, CmF4, CmF5, CmF7 and CmH8 (SANTOS et al., 2009); nine primers of the tilapia (Oreochromis niloticus) UNH 104, UNH 108, UNH 136, UNH 140, UNH 159, UNH 160, UNH 162, UNH 163 and UNH 169 (LEE & KOCHER, 1996).