Fraser Syndrome: Causes, Symptoms, Diagnosis, Treatment
Fraser Syndrome- This is a relatively rare medical condition in which there is visible webbing of the fingers and toes, renal dysfunction, genital malformations etc. Fraser syndrome is known by other various names like Cryptophthalmos-Syndactyly Syndrome, Cryptophthalmos Syndrome, and Cyclopism among others.
What is Fraser Syndrome?
Fraser Syndrome as stated is a rare genetic condition in which there is visible webbing of fingers and toes. There is also renal dysfunction, genital malformations, and in some instances total fusion of eyelids, a condition called as cryptophthalmos, which may result in blindness. In infants affected with Fraser syndrome, renal abnormalities may involve inadequate development or hypoplasia and even absence of kidneys whether a solitary kidney or both the kidneys. In males with Fraser Syndrome, the testes may not to descend enough into the scrotum, there may be presence of hypospadias, and the penis may be extremely small. In females with Fraser Syndrome, there may be presence of clitoromegaly or abnormally shaped uterus. Additionally, there may also be presence of ear dysfunction resulting in hearing problems. Fraser Syndrome is an autosomal recessive genetic disorder, which means that both parents need to have the affected gene causing Fraser Syndrome.
Causes of Fraser Syndrome
As stated, Fraser syndrome is an autosomal recessive disorder. The altered gene has been stated to be present in long arm of chromosome 4 (4q21). Chromosomes present in nucleus of human cells have genetic information for every person. By Autosomal Recessive, one means that the abnormality is inherited by the chromosomes of both parents.
Symptoms of Fraser Syndrome
If an individual is affected with Fraser Syndrome, then that individual will have visible physical abnormalities, which can include complete fusion of the eyelids causing a condition called as cryptophthalmos, missing kidneys, webbed fingers or toes. Some of the other defects associated with Fraser Syndrome are hair growth extending from forehead to eyebrows, malformation of eyelid ducts, widely spaced nipples, along with mental impairment. There may also be inadequate development of the genitals
Diagnosis of Fraser Syndrome
Diagnosis is usually made on a detailed physical examination and history taking, especially if there is a family history of Fraser Syndrome. Confirmation of the diagnosis is pretty visible with the deformities mentioned above and can also be confirmed by imaging studies.
Treatment for Fraser Syndrome
Treatment of Fraser syndrome mainly involves surgical procedure to correct the physical deformities involved with this Fraser Syndrome. Apart from surgery, other treatments are generally supportive. Genetic counseling is usually beneficial for parents of children affected with this Fraser Syndrome.