Fraser syndrome
Fraser Syndrome
Fraser Syndrome (pronounced: fray-zer sin-drome), also known as Meyer-Schwickerath's syndrome or Ullrich-Feichtiger syndrome, is a rare genetic disorder characterized by a range of developmental malformations. The syndrome is named after the Canadian geneticist, George R. Fraser, who first described the condition in 1962.
Etymology
The term "Fraser Syndrome" is derived from the name of the geneticist who first identified the condition, George R. Fraser. The alternate names, Meyer-Schwickerath's syndrome and Ullrich-Feichtiger syndrome, are named after other researchers who have contributed to the understanding of this condition.
Definition
Fraser Syndrome is a rare, autosomal recessive disorder, which means it is inherited in a manner where both parents must carry a copy of the mutated gene to pass it on to their offspring. The syndrome is characterized by a range of developmental malformations, including cryptophthalmos (hidden eyes), syndactyly (fused fingers or toes), and abnormalities in the kidneys and genitalia.
Symptoms
The symptoms of Fraser Syndrome can vary greatly from person to person. The most common symptoms include cryptophthalmos, syndactyly, and abnormalities in the kidneys and genitalia. Other symptoms may include hearing loss, intellectual disability, and respiratory problems.
Diagnosis
Diagnosis of Fraser Syndrome is typically based on the presence of the characteristic physical features. Genetic testing can confirm the diagnosis and identify the specific gene mutations involved.
Treatment
There is currently no cure for Fraser Syndrome. Treatment is symptomatic and supportive, and may include surgery to correct physical abnormalities, as well as ongoing care from a team of specialists to manage the various health issues associated with the syndrome.
Prognosis
The prognosis for individuals with Fraser Syndrome varies depending on the severity of the symptoms. Some individuals may have a normal lifespan with appropriate medical care, while others may have life-threatening complications.
See Also
External links
- Medical encyclopedia article on Fraser syndrome
- Wikipedia's article - Fraser syndrome
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