Camptodactyly-taurinuria syndrome
Camptodactyly-taurinuria syndrome is a rare genetic disorder characterized by the presence of camptodactyly, a condition where the fingers are permanently bent, and taurinuria, the abnormal presence of the amino acid taurine in the urine.
Etiology[edit | edit source]
The exact cause of Camptodactyly-taurinuria syndrome is currently unknown. However, it is believed to be a genetic disorder, suggesting that it is inherited from parents to their offspring. The specific genes involved in this syndrome have not been identified yet.
Symptoms[edit | edit source]
The primary symptoms of Camptodactyly-taurinuria syndrome are camptodactyly and taurinuria. Camptodactyly is a condition where one or more fingers are permanently bent towards the palm. This can affect one or both hands and can vary in severity from mild to severe. Taurinuria is the abnormal presence of the amino acid taurine in the urine. Other symptoms may include growth retardation, intellectual disability, and facial dysmorphism.
Diagnosis[edit | edit source]
Diagnosis of Camptodactyly-taurinuria syndrome is based on the presence of the characteristic symptoms. Genetic testing may be used to confirm the diagnosis and to identify the specific genetic mutation causing the syndrome.
Treatment[edit | edit source]
There is currently no cure for Camptodactyly-taurinuria syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the syndrome. This may include physical therapy for camptodactyly and dietary modifications for taurinuria.
Prognosis[edit | edit source]
The prognosis for individuals with Camptodactyly-taurinuria syndrome varies depending on the severity of the symptoms. With appropriate management, individuals with this syndrome can lead a normal life.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Camptodactyly-taurinuria syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
