campomelic dysplasia

An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic sc

An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.

Signs and symptoms

• Cervical spine instability
• Midface retrusion
• Cervical kyphosis
• Hypospadias
• Depressed nasal bridge
• Micrognathia
• Hypertelorism
• Low-set ears
• Hypoplastic scapulae
• Relative macrocephaly

Also known as: Acampomelic Campomelic Dysplasia