Brachydactyly type A7
Brachydactyly Type A7 Brachydactyly Type A7 is a rare genetic condition characterized by the shortening of the fingers and toes due to abnormal development of the bones. This condition is part of a group of disorders known as brachydactyly, which literally means "short fingers" in Greek. Brachydactyly Type A7 is specifically distinguished by its unique pattern of bone shortening and inheritance.
Clinical Features[edit | edit source]
Individuals with Brachydactyly Type A7 typically present with:
- Shortened middle phalanges in the fingers and toes.
- Possible fusion of the phalanges (symphalangism).
- Normal function of the hands and feet despite the shortened digits.
The condition does not usually affect other parts of the body and is primarily a cosmetic concern.
Genetics[edit | edit source]
Brachydactyly Type A7 is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific gene mutation responsible for Brachydactyly Type A7 has not been definitively identified, but it is believed to involve genes that regulate bone growth and development.
Diagnosis[edit | edit source]
Diagnosis of Brachydactyly Type A7 is typically made based on:
- Clinical examination of the hands and feet.
- Radiographic imaging to assess the bone structure.
- Family history to identify inheritance patterns.
Genetic testing may be used to confirm the diagnosis and to differentiate it from other types of brachydactyly.
Treatment[edit | edit source]
There is no specific treatment for Brachydactyly Type A7, as it is primarily a cosmetic condition. Management focuses on:
- Monitoring for any functional impairments.
- Providing genetic counseling to affected families.
In some cases, surgical intervention may be considered for cosmetic reasons or if there is significant functional impairment.
Epidemiology[edit | edit source]
Brachydactyly Type A7 is a rare condition, and its exact prevalence is unknown. It is part of a spectrum of brachydactyly types, each with varying degrees of rarity and clinical presentation.
See Also[edit | edit source]
External Links[edit | edit source]
- Genetic and Rare Diseases Information Center (GARD)
- [Online Mendelian Inheritance in Man (OMIM)](https://www.omim.org/)
NIH genetic and rare disease info[edit source]
Brachydactyly type A7 is a rare disease.
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Contributors: Prab R. Tumpati, MD
