Brachydactyly Temtamy type
= = Brachydactyly Temtamy Type ==
Brachydactyly Temtamy 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 named after the Egyptian geneticist, Dr. Samia Temtamy, who first described it.
Clinical Features[edit | edit source]
Individuals with Brachydactyly Temtamy type typically present with:
- Shortened fingers and toes (brachydactyly)
- Possible fusion of bones in the hands and feet (syndactyly)
- Other skeletal anomalies
The degree of shortening and fusion can vary significantly among affected individuals.
Genetic Basis[edit | edit source]
Brachydactyly Temtamy type is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene mutation responsible for this condition has been identified in some cases, but research is ongoing to fully understand the genetic mechanisms involved.
Diagnosis[edit | edit source]
Diagnosis of Brachydactyly Temtamy type is primarily based on clinical evaluation and radiographic findings. Genetic testing can confirm the diagnosis by identifying mutations in the associated gene.
Management[edit | edit source]
There is no cure for Brachydactyly Temtamy type, and treatment is generally supportive. Management may include:
- Physical therapy to improve hand and foot function
- Surgical intervention in severe cases to correct bone deformities
Epidemiology[edit | edit source]
Brachydactyly Temtamy type is extremely rare, with only a few cases reported in the medical literature. Its prevalence is not well established due to the limited number of identified cases.
Research Directions[edit | edit source]
Ongoing research aims to better understand the genetic mutations involved in Brachydactyly Temtamy type and to explore potential therapeutic approaches. Advances in genetic testing and molecular biology may provide further insights into this rare condition.
See Also[edit | edit source]
==
NIH genetic and rare disease info[edit source]
Brachydactyly Temtamy type is a rare disease.
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Contributors: Prab R. Tumpati, MD
