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
  • cleft palate
  • micrognatia
  • flat face
  • 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

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/114290