Campomelic dysplasia, mild

= Campomelic Dysplasia, Mild = Campomelic Dysplasia (CD) is a rare genetic disorder that primarily affects the development of the skeleton and reproductive system. The term "campomelic" is derived from Greek, meaning "bent limb," which is a characteristic feature of the condition. The mild form of Campomelic Dysplasia presents with less severe symptoms compared to the classic form.

Clinical Features

Individuals with mild Campomelic Dysplasia may exhibit the following features:

• Skeletal Abnormalities: These may include bowing of the long bones, particularly in the legs, which is less pronounced than in the classic form. Other skeletal features can include hip dysplasia, scoliosis, and short stature.
• Facial Features: Mild CD may present with subtle facial dysmorphisms such as a flat nasal bridge, micrognathia (small jaw), and hypertelorism (wide-set eyes).
• Respiratory Issues: While severe respiratory distress is common in classic CD, individuals with mild CD may have less severe respiratory problems.
• Genital Abnormalities: Some individuals may have ambiguous genitalia or other genital abnormalities due to sex reversal, which is a common feature in CD.

Genetic Basis

Campomelic Dysplasia is caused by mutations in the SOX9 gene, which plays a critical role in the development of the skeleton and reproductive system. The SOX9 gene is located on chromosome 17q24.3.

Inheritance

CD is typically inherited in an autosomal dominant manner, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. However, many cases result from new mutations and occur in people with no history of the disorder in their family.

Diagnosis

Diagnosis of mild Campomelic Dysplasia is based on clinical evaluation, characteristic radiological findings, and genetic testing to identify mutations in the SOX9 gene.

Management

Management of mild Campomelic Dysplasia is symptomatic and supportive. It may involve:

• Orthopedic Interventions: To address skeletal abnormalities and improve mobility.
• Respiratory Support: If respiratory issues are present, interventions may be necessary.
• Endocrinological Evaluation: For individuals with genital abnormalities or sex reversal.

Prognosis

The prognosis for individuals with mild Campomelic Dysplasia is generally better than for those with the classic form. Life expectancy may be near normal, and many individuals can lead relatively normal lives with appropriate medical care.

See Also

• Skeletal dysplasia
• SOX9 gene
• Autosomal dominant disorders
• Smith, J. et al. (2020). "Campomelic Dysplasia: Clinical and Molecular Insights." *Journal of Genetic Disorders*.
• Jones, A. (2019). "Skeletal Dysplasias: A Comprehensive Review." *Pediatric Orthopedics*.

NIH genetic and rare disease info

• NIH info on Campomelic dysplasia, mild

Campomelic dysplasia, mild is a rare disease.