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Fraser syndrome is a rare genetic disorder characterized by fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genitalia and urinary tract.
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What is Fraser syndrome?
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What happens if a person has cryptophthalmos?
Bilateral cryptophthalmos with microphthalmos in the left ocular globe and abnormal right ocular globe in a female infant with Fraser syndrome. Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder, [1] [2] identified by several ...
In cryptophthalmos, the eyes can also be malformed; for example, the eyeballs may be fused to the skin covering them, or they may be small ( microphthalmia) or missing (anophthalmia). Eye abnormalities typically lead to impairment or loss of vision in people with Fraser syndrome.
Oct 30, 2020 · Failure of the eyelids to form properly (cryptophthalmos) is the most common abnormality, seen in 93% of affected individuals. Other less common forms of cryptophtalmos seen in these individuals are only one eye completely covered by skin, or one or both eyes partially covered.
Fraser syndrome is a rare genetic disorder characterized by fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genitalia and urinary tract. Signs and symptoms occur early in development and may also include abnormalities of the respiratory tract, specifically involving the ...
Fraser syndrome. Suggest an update. Disease definition. A rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies. ORPHA:2052. Classification level: Disorder. Synonym (s): Cryptophthalmos-syndactyly syndrome. Prevalence: Unknown. Inheritance: Autosomal recessive.
Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. The inheritance is autosomal recessive.
