Brachydactyly Haws type
= = Brachydactyly Haws Type ==
Brachydactyly Haws type is a rare genetic disorder characterized by the abnormal shortening of the fingers and toes due to underdevelopment of the bones in the hands and feet. This condition is a specific form of brachydactyly, which is a general term for shortened digits.
Clinical Features[edit | edit source]
Individuals with Brachydactyly Haws type typically present with:
- Shortened fingers and toes
- Possible fusion of some of the phalanges (bones of the fingers and toes)
- Normal function of the hands and feet despite the physical differences
Genetics[edit | edit source]
Brachydactyly Haws type is inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene is sufficient to cause the disorder. The specific gene mutation responsible for this type of brachydactyly has not been fully identified, but it is believed to involve genes that regulate bone growth and development.
Diagnosis[edit | edit source]
Diagnosis of Brachydactyly Haws type is primarily based on:
- Clinical examination of the hands and feet
- Family history
- Radiographic imaging to assess the bone structure
Differential Diagnosis[edit | edit source]
Brachydactyly Haws type should be differentiated from other types of brachydactyly, such as:
Each type has distinct features and genetic causes.
Management[edit | edit source]
There is no specific treatment for Brachydactyly Haws type. Management focuses on:
- Monitoring growth and development
- Providing supportive care as needed
- Surgical intervention in rare cases where function is impaired
Prognosis[edit | edit source]
The prognosis for individuals with Brachydactyly Haws type is generally good, as the condition does not typically affect overall health or life expectancy. Most individuals lead normal, healthy lives with minimal impact from the condition.
Research[edit | edit source]
Ongoing research aims to better understand the genetic basis of Brachydactyly Haws type and to explore potential therapeutic interventions. Advances in genetic testing may improve diagnostic accuracy and family planning options.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Brachydactyly Haws type is a rare disease.
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Contributors: Prab R. Tumpati, MD