Catel Manzke syndrome
Catel Manzke Syndrome
Catel Manzke syndrome (pronunciation: /kætəl mænzkeɪ sɪndroʊm/) is a rare genetic disorder characterized by distinctive abnormalities of the hands and a condition known as Pierre Robin sequence.
Etymology
The syndrome is named after the German pediatricians, Franz Catel and John Manzke, who first described the condition in 1961.
Definition
Catel Manzke syndrome is a genetic disorder that primarily affects the hands and the facial structure. The most distinctive feature of this syndrome is the presence of an extra (supernumerary) bone in the hands, specifically in the index finger, which is typically associated with a characteristic finger deformity (clinodactyly). This condition is also associated with Pierre Robin sequence, which involves a smaller than normal lower jaw (micrognathia), a tongue that falls back in the throat (glossoptosis), and difficulty breathing.
Symptoms
The symptoms of Catel Manzke syndrome can vary but often include:
- Clinodactyly of the index finger
- Micrognathia
- Glossoptosis
- Difficulty breathing
- Cleft palate (in some cases)
Genetics
Catel Manzke syndrome is caused by mutations in the TGDS gene. This gene provides instructions for making a protein that is involved in the production of a molecule called GDP-L-fucose, which is important for the function of certain proteins. The mutation in the TGDS gene disrupts the production of GDP-L-fucose, leading to the abnormalities seen in Catel Manzke syndrome.
Diagnosis
Diagnosis of Catel Manzke syndrome is based on the presence of the characteristic symptoms. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Catel Manzke syndrome is symptomatic and supportive. It may include surgery to correct the hand deformities and manage the breathing difficulties associated with Pierre Robin sequence.
See also
External links
- Medical encyclopedia article on Catel Manzke syndrome
- Wikipedia's article - Catel Manzke syndrome
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