Campomelic dysplasia

Campomelic Dysplasia

Diagram of autosomal dominant inheritance.

Campomelic dysplasia is a rare genetic disorder characterized by skeletal abnormalities, distinctive facial features, and, in some cases, sex reversal. It is caused by mutations in the SOX9 gene, which plays a critical role in the development of the skeleton and reproductive system.

Clinical Features

Individuals with campomelic dysplasia typically present with:

• Skeletal abnormalities: These include bowing of the long bones, particularly the tibia and femur, hip dislocation, and clubfoot.
• Facial features: Affected individuals often have a small chin (micrognathia), a flat face, and a prominent forehead.
• Respiratory issues: Due to tracheobronchomalacia, individuals may experience breathing difficulties.
• Sex reversal: Some individuals with an XY karyotype may develop female genitalia.

Genetics

Campomelic dysplasia is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. The SOX9 gene, located on chromosome 17, is crucial for chondrogenesis and gonadal development. Mutations in this gene disrupt normal development, leading to the features of campomelic dysplasia.

Diagnosis

Diagnosis is typically based on clinical features and can be confirmed by genetic testing to identify mutations in the SOX9 gene. Prenatal diagnosis is possible through ultrasound and genetic testing if there is a known family history.

Management

Management of campomelic dysplasia is supportive and symptomatic. It may include:

• Orthopedic interventions: To address skeletal abnormalities and improve mobility.
• Respiratory support: For individuals with breathing difficulties.
• Endocrinological evaluation: For individuals with sex reversal or other hormonal issues.

Prognosis

The prognosis for individuals with campomelic dysplasia varies. Many affected individuals have a shortened lifespan due to respiratory complications, but some may survive into adulthood with appropriate medical care.

Related Pages

• SOX9
• Autosomal dominant
• Skeletal dysplasia
• Sex reversal