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Which are the symptoms of Fraser Syndrome?

See the worst symptoms of affected by Fraser Syndrome here

Fraser Syndrome symptoms

Fraser Syndrome is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of physical abnormalities, primarily affecting the eyes, ears, and urogenital system. The syndrome was first described by geneticist Charles A. Fraser in 1962.



Eyes: One of the most prominent features of Fraser Syndrome is the presence of eye abnormalities. These can include fusion of the eyelids (cryptophthalmos), where the upper and lower eyelids are joined together, resulting in a lack of visible eyes. In some cases, the eyelids may be partially fused, leading to incomplete closure of the eyes. Other eye abnormalities that may be present include small or missing eyes (microphthalmia/anophthalmia), cataracts, and coloboma (a gap or hole in one of the structures of the eye).



Ears: Individuals with Fraser Syndrome often have malformations of the ears. This can include small or absent external ears (microtia/anotia), as well as abnormalities of the middle and inner ear. Hearing loss is a common feature of the syndrome, ranging from mild to severe.



Urogenital System: Another significant aspect of Fraser Syndrome is the involvement of the urogenital system. Both males and females may have genital abnormalities. In males, these can include undescended testicles (cryptorchidism), abnormal development of the penis (hypospadias), or complete absence of the penis (aphallia). Females may have underdeveloped or absent ovaries and uterus. Both genders may also experience kidney abnormalities, such as horseshoe kidney or renal agenesis.



Other Physical Abnormalities: In addition to the characteristic features mentioned above, individuals with Fraser Syndrome may exhibit other physical abnormalities. These can include syndactyly (fusion of fingers or toes), limb malformations, joint contractures, and abnormalities of the respiratory and cardiovascular systems.



Intellectual and Developmental Disabilities: While physical abnormalities are the primary features of Fraser Syndrome, some individuals may also experience intellectual and developmental disabilities. The severity of these disabilities can vary widely, ranging from mild learning difficulties to more significant cognitive impairments.



Other Possible Features: Although less common, there are other potential features associated with Fraser Syndrome. These can include facial asymmetry, cleft lip and/or palate, gastrointestinal abnormalities, and abnormalities of the central nervous system.



Fraser Syndrome is a complex disorder with a wide range of symptoms and severity. The specific combination of features can vary from person to person, even among affected individuals within the same family. Due to its rarity and variability, diagnosis of Fraser Syndrome often requires a comprehensive evaluation by a team of medical specialists, including geneticists, ophthalmologists, otolaryngologists, and urologists.


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