Brachydactyly absence of distal phalanges
= = Brachydactyly Absence of Distal Phalanges ==
Brachydactyly is a general term that refers to the shortening of the fingers and toes due to underdevelopment of the bones. The specific condition known as "Brachydactyly absence of distal phalanges" is a rare genetic disorder characterized by the absence of the distal phalanges, which are the bones at the tips of the fingers and toes.
Clinical Features[edit | edit source]
Individuals with this condition typically present with:
- Shortened fingers and toes
- Absence of the nails, as the distal phalanges are missing
- Possible involvement of other skeletal abnormalities
The severity of the condition can vary, with some individuals having only a few digits affected, while others may have more extensive involvement.
Genetic Basis[edit | edit source]
Brachydactyly absence of distal phalanges is often inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, the specific genetic mutations responsible for this condition can vary.
Diagnosis[edit | edit source]
Diagnosis is typically made based on:
- Clinical examination
- Radiographic imaging to confirm the absence of distal phalanges
- Genetic testing to identify mutations
Management[edit | edit source]
There is no cure for brachydactyly absence of distal phalanges, but management focuses on:
- Occupational therapy to improve hand function
- Surgical interventions in some cases to improve appearance or function
Related Conditions[edit | edit source]
Brachydactyly can occur as an isolated condition or as part of a syndrome. Related conditions include:
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the genetic causes of brachydactyly and to develop potential therapies. Advances in genetic testing and molecular biology continue to provide insights into this rare condition.
See Also[edit | edit source]
==
NIH genetic and rare disease info[edit source]
Brachydactyly absence of distal phalanges is a rare disease.
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