Fryns-Aftimos syndrome
Fryns-Aftimos syndrome
Fryns-Aftimos syndrome (pronounced: fryns-af-ti-mos sin-drome) is a rare genetic disorder characterized by a variety of physical abnormalities.
Etymology
The syndrome is named after the Belgian geneticist, Pierre Fryns, and the Lebanese pediatrician, Pierre Aftimos, who first described the condition in the medical literature.
Definition
Fryns-Aftimos syndrome is a genetic disorder that affects multiple parts of the body. The syndrome is characterized by microcephaly, cleft palate, polydactyly, and congenital heart defects. It is considered a rare disease, with only a few cases reported worldwide.
Symptoms
The symptoms of Fryns-Aftimos syndrome can vary greatly from person to person. However, common symptoms include:
- Microcephaly: A condition where the head is significantly smaller than normal due to abnormal brain development.
- Cleft palate: A split or opening in the roof of the mouth.
- Polydactyly: The presence of more than the usual number of fingers or toes.
- Congenital heart defects: Problems with the structure of the heart that are present at birth.
Causes
Fryns-Aftimos syndrome is caused by mutations in the ZNF462 gene. This gene provides instructions for making a protein that is involved in the development of many parts of the body. Mutations in the ZNF462 gene disrupt this development, leading to the symptoms of Fryns-Aftimos syndrome.
Diagnosis
Diagnosis of Fryns-Aftimos syndrome is based on the presence of characteristic symptoms and confirmed by genetic testing to identify mutations in the ZNF462 gene.
Treatment
There is currently no cure for Fryns-Aftimos syndrome. Treatment is symptomatic and supportive, and may include surgery to correct physical abnormalities, as well as therapies to manage symptoms and improve quality of life.
See also
External links
- Medical encyclopedia article on Fryns-Aftimos syndrome
- Wikipedia's article - Fryns-Aftimos syndrome
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