Fraser syndrome

Fraser Syndrome

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Fraser syndrome

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Description:
Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-Fran├žois syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder. The syndrome is named after George Fraser.

Signs and symptoms

It is characterized by developmental defects including cryptophthalmos (where the eyelids fail to separate in each eye), and malformations in the genitals (such as micropenis, cryptorchidism or clitoromegaly). Congenital malformations of the nose, ears, larynx and renal system, as well as mental retardation, manifest occasionally. Syndactyly (fused fingers or toes) has also been noted in some cases.

Genetics



The genetic background of this disease has been linked to a gene called FRAS1, which seems to be involved in skin epithelial morphogenesis during early development. It has also been associated with FREM2.

Diagnosis

The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy.

Epidemiology

The incidence of Fraser syndrome is 0.043 per 10,000 live born infants and 1.1 in 10,000 stillbirths, making it a rare syndrome.<ref...
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