Brachydactyly type A1

Brachydactyly type A1 (pronunciation: brak-i-dak-til-ee type A1) is a rare genetic disorder characterized by the shortening or absence of the middle bones of the fingers and toes. The term "brachydactyly" comes from the Greek words "brachys" (short) and "daktylos" (finger).

Etymology

The term "brachydactyly" is derived from the Greek words "brachys" meaning "short" and "daktylos" meaning "finger". The term "type A1" is a classification used to describe the specific pattern of malformation seen in this condition.

Symptoms

The primary symptom of Brachydactyly type A1 is the shortening or absence of the middle bones of the fingers and toes. This can result in shortened fingers and toes, or in some cases, the absence of some fingers or toes. Other symptoms can include joint pain and limited mobility in the affected fingers or toes.

Causes

Brachydactyly type A1 is caused by mutations in the IHH gene. This gene provides instructions for making a protein that is involved in the development of bones and other tissues. Mutations in the IHH gene disrupt the normal development of these tissues, leading to the symptoms of Brachydactyly type A1.

Diagnosis

Diagnosis of Brachydactyly type A1 is typically made through a physical examination and review of medical and family history. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Brachydactyly type A1. Treatment is focused on managing symptoms and improving quality of life. This can include physical therapy, pain management, and in some cases, surgery to improve function in the affected fingers or toes.

Related Terms

• Brachydactyly
• IHH gene
• Genetic disorder
• Mutation

External links

• Medical encyclopedia article on Brachydactyly type A1
• Wikipedia's article - Brachydactyly type A1

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