Yunis Varon syndrome
Yunis Varon Syndrome
Yunis Varon Syndrome (pronounced: yoo-nis vah-ron sin-drome), also known as Cleidocranial dysplasia and digital anomalies is a rare genetic disorder characterized by skeletal abnormalities, growth retardation, and distinctive facial features. The syndrome was first described by Dr. Emilio Yunis and Dr. Manuel Varon in 1980.
Etymology
The syndrome is named after Dr. Emilio Yunis and Dr. Manuel Varon, who first described the condition in 1980. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms" or "running together".
Symptoms
Yunis Varon Syndrome is characterized by a number of symptoms, including:
- Cleidocranial dysplasia: A condition characterized by abnormalities of the collarbones (clavicles) and the skull.
- Digital anomalies: Abnormalities in the fingers and toes, such as missing or underdeveloped digits.
- Growth retardation: Slower than normal growth.
- Facial dysmorphism: Distinctive facial features, such as a prominent forehead, wide-set eyes, and a small jaw.
Causes
Yunis Varon Syndrome is caused by mutations in the FIG4 gene. This gene provides instructions for making a protein that is involved in the growth and maintenance of nerve cells. Mutations in the FIG4 gene disrupt the normal function of this protein, leading to the symptoms of Yunis Varon Syndrome.
Diagnosis
Diagnosis of Yunis Varon Syndrome is based on the presence of characteristic symptoms and confirmed by genetic testing to identify mutations in the FIG4 gene.
Treatment
There is currently no cure for Yunis Varon Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and surgical interventions for skeletal abnormalities.
See Also
External links
- Medical encyclopedia article on Yunis Varon syndrome
- Wikipedia's article - Yunis Varon syndrome
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