Brachydactyly type A5 nail dysplasia

Brachydactyly type A5 nail dysplasia is a rare genetic disorder characterized by shortening of the fingers and toes (digits) and abnormalities of the nails. This condition is also known as Brachydactyly-nail dysplasia syndrome.

Symptoms

The primary symptom of Brachydactyly type A5 nail dysplasia is the shortening of the digits, a condition known as brachydactyly. This can affect both the fingers and the toes. In addition to brachydactyly, individuals with this condition often have abnormalities of the nails. These can include small, underdeveloped nails (micronychia), absent nails (anonychia), or nails that are split or ridged.

Causes

Brachydactyly type A5 nail dysplasia is caused by mutations in the HOXD13 gene. This gene provides instructions for making a protein that plays a crucial role in the development of the limbs, fingers, and toes. Mutations in the HOXD13 gene disrupt this development, leading to the symptoms of Brachydactyly type A5 nail dysplasia.

Diagnosis

Diagnosis of Brachydactyly type A5 nail dysplasia is typically based on the physical symptoms, particularly the characteristic hand and foot abnormalities. Genetic testing can confirm a diagnosis by identifying a mutation in the HOXD13 gene.

Treatment

There is currently no cure for Brachydactyly type A5 nail dysplasia. Treatment is symptomatic and supportive, and may include physical therapy to improve hand and foot function, and surgery to correct bone abnormalities.

See also

• Brachydactyly
• HOXD13
• Micronychia
• Anonychia

NIH genetic and rare disease info

• NIH info on Brachydactyly type A5 nail dysplasia

Brachydactyly type A5 nail dysplasia is a rare disease.

Template:Congenital disorders Template:Syndromes

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