Camptodactyly, tall stature, and hearing loss syndrome

Camptodactyly-tall stature-hearing loss syndrome

Camptodactyly, tall stature, and hearing loss syndrome (CATSHL syndrome) is a rare genetic disorder characterized by the combination of camptodactyly (permanent bending of one or more fingers), tall stature, and hearing loss. This syndrome is inherited in an autosomal dominant manner.

Signs and Symptoms

Individuals with CATSHL syndrome typically present with the following features:

• Camptodactyly: A condition where one or more fingers are permanently bent.
• Tall stature: Height significantly above the average for age and sex.
• Hearing loss: This can range from mild to severe and may affect one or both ears.

Additional features may include:

• Scoliosis: Abnormal lateral curvature of the spine.
• Arachnodactyly: Long, slender fingers and toes.
• Joint hypermobility: Increased flexibility of the joints.

Genetics

CATSHL syndrome is caused by mutations in the FGFR3 gene, which provides instructions for making a protein involved in the development and maintenance of bone and brain tissue. Mutations in this gene can lead to abnormal growth and development, resulting in the features of CATSHL syndrome.

Diagnosis

Diagnosis of CATSHL syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the FGFR3 gene. Audiometry may be used to assess the degree of hearing loss.

Management

Management of CATSHL syndrome is symptomatic and supportive. This may include:

• Physical therapy to improve joint mobility and function.
• Hearing aids or other assistive devices for individuals with hearing loss.
• Regular monitoring and treatment of scoliosis if present.

Prognosis

The prognosis for individuals with CATSHL syndrome varies depending on the severity of symptoms. Early intervention and supportive care can improve the quality of life for affected individuals.

See Also

• Genetic disorder
• Camptodactyly
• Tall stature
• Hearing loss
• FGFR3

External Links

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