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campomelic dysplasia
Epidemiology: rare
Genetics:
- autosomal dominant
- associated with defects in SOX9
Clinical manifestations:
- congenital osteochondrodysplasia
- male-to-female autosomal sex reversal in 2/3 of affected karyotypic males
- congenital bowing & angulation of long bones
- unusually small scapulae
- deformed pelvis & spine
- missing pair of ribs
- craniofacial defects are common
a) cleft palate
b) micrognatia
c) flat face
d) hypertelorism
- various defects of the ear are often evident, affecting the cochlea, malleus incus, stapes & tympanum
- most patients die soon after birth due to respiratory distress, attributed to hypoplasia of the tracheobronchial cartilage & small thoracic cage
Complications:
- often lethal
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 114290
References
UniProt :accession P48436