Familial streblodactyly with amino-aciduria
Familial Streblodactyly with Amino-aciduria[edit | edit source]
Familial Streblodactyly with Amino-aciduria is a rare genetic disorder characterized by the presence of streblodactyly, a condition involving abnormal finger and toe formation, and amino-aciduria, which is the abnormal excretion of amino acids in the urine. This condition is inherited in a familial pattern, indicating a genetic basis.
Clinical Features[edit | edit source]
Patients with Familial Streblodactyly with Amino-aciduria typically present with:
- Streblodactyly: This involves the malformation of fingers and toes, which may include syndactyly (fusion of digits), brachydactyly (short digits), or other anomalies.
- Amino-aciduria: This is detected through urine tests that reveal elevated levels of amino acids, indicating a possible metabolic disorder.
Genetic Basis[edit | edit source]
The genetic cause of Familial Streblodactyly with Amino-aciduria is not fully understood, but it is believed to involve mutations in genes responsible for limb development and amino acid metabolism. Genetic counseling is recommended for affected families.
Diagnosis[edit | edit source]
Diagnosis of this condition involves:
- Clinical Examination: Physical examination to assess the extent of limb malformations.
- Urine Analysis: To detect amino-aciduria, specialized tests such as amino acid chromatography may be used.
- Genetic Testing: May be conducted to identify specific mutations associated with the disorder.
Management[edit | edit source]
Management of Familial Streblodactyly with Amino-aciduria is symptomatic and supportive:
- Surgical Intervention: May be required to correct severe limb deformities.
- Nutritional Support: Dietary modifications may be necessary to manage amino-aciduria.
- Genetic Counseling: Important for family planning and understanding the inheritance pattern.
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the genetic mutations involved in this condition and to develop targeted therapies. Advances in genetic testing and personalized medicine hold promise for improved management of rare genetic disorders like Familial Streblodactyly with Amino-aciduria.
See Also[edit | edit source]
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NIH genetic and rare disease info[edit source]
Familial streblodactyly with amino-aciduria is a rare disease.
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