Multiple physical abnormalities are the major signs of Fraser Syndrome. Some of the most common ones are middle and outer ear deformities, partial fusion of the fingers and toes (syndactyly), complete fusion of the eyelids (cryptophthalmos) and malformed or missing kidneys (renal agenesis) as already discussed above .
However, patients often present a broad nose with deep indentations and a flattened bridge on both sides of the nostril.
In some patients, there may be hair growth extending from the forehead down to the eyebrows, cleft or high palate, malformation of the eyelid ducts (responsible for the conveyance of tears), widely spaced nipples, displaced navel, missing or malformed larynx, malformation of the pubic bones and in rare cases, mental deficiency.
Incomplete genital development is another strong indication of this syndrome. In male patients, failure of the testicles to descend into the scrotum and abnormal urethral opening often to the underside of the penis is common . In females, an enlarged clitoris (clitoromegaly), malformed fallopian tubes, fused vaginal opening and birconate uterus are commonly presented.
There are some conditions closely related to the Fraser syndrome and so the symptoms of those diseases can show similarities to those reported for the Fraser syndrome. For a differential diagnosis, proper comparisons will be useful .
Bilateral renal agenisis: This is the absence of both kidneys at birth. It is a genetic disorder that is characterized by the inability of the kidneys to develop properly in a fetus. With the absence of kidneys comes a deficiency of amniotic fluid in pregnant women. The amniotic fluid is responsible for providing cushion for the developing fetus. When this fluid is insufficient, the fetus will be compressed leading to more malformations for the baby at birth.
Coloboma of iris-anal atreiss syndrome: Also known as the cat-eye syndrome, this ailment is characterized by a fissure in the iris of the eye and the lack of an anal opening (renal agenesis) may also be present.
Diagnosing the Fraser syndrome begins with a comprehensive look at the family history and physical examination. The confirmation is straightforward and imaging devices can be used in difficult situations .
Treatment is based on provision of close and regular support.
Fraser syndrome is an autosomal recessive genetic defect. The mutant gene that causes the condition has been traced to the 4q21 (long arm of the chromosome 4). The genetic information for every individual is found in chromosomes located in the nucleus of the human cells. The cells in the human body come with 46 chromosomes. The human chromosomes are numbered from 1-22 with the sex chromosomes denoted as X and Y .
Females have two X chromosomes but males have one X and one Y chromosomes. All the chromosome come with a short arm labeled as “p” and the long arm labeled as “p”. The arms are further categorized into many numbered bands. Therefore for instance, the “chromosome 4q21” refers to band 21 located on the long arm of the 4th chromosome. The numbered bands show where the thousands of genes present on each chromosome are located.
Genetic diseases such as the Fraser syndrome are determined by the combination of genes for a particular trait which are on the chromosomes received from each parent.
When an individual inherits the same abnormal gene for the same trait from each parent, recessive genetic ailments occur. The individual becomes an asytompatic carrier of the disease condition when he or she receives one gene for the disease and one normal gene.
For parents who are carriers, the chance of passing on the defective gene to produce an affected child is 25% for each pregnancy. There is a 50% chance that the child will be a carrier of the condition like the parent. There is also a 25% chance that the child will receive normal genes from both parents and stay normal for the particular trait.
All individuals in the family will have some of the abnormal genes. For parents who are consanguineous, there is a higher chance of carry the same abnormal gene in comparison to parents that are unrelated. This means that consanguineous parents have a higher chance of producing children with a recessive genetic defect.
The Fraser syndrome affects both females and males in equal proportions. The syndrome has been classified as rare because the incidence is 0.043 per 10,000 for live born infants and 1.1 in 10,000 for all still birth cases .
Fraser syndrome in infants comes with renal malformations that may include dysplasia (improper development), hypoplasia (underdevelopment) and unilateral or bilateral renal agenesis (absence of one or both kidneys). The may also show additional abnormalities such as malformations of the middle ear and the outer ear. This may result in hearing impairment .
For females with the Fraser syndrome, clitoromegaly (abnormally enlarged clitoris), bicornate uterus (abnormaly shaped uterus and malformed fallopian tubes are common. Also, the labia (folds of skin on either side of the vagina) may be fused abnormally.
There are no guidelines for prevention of Fraser Syndrome.
Fraser syndrome is typically depicted by a partial webbing of the toes and fingers. It is a rare genetic defect.
Apart from partial syndactyly, the condition is equally characterized by cryptophthalmos (fusion of the eyelids), renal abnormalities and genital malformations . When cryptophthlamos is present, blindness is almost certain.
The importance of genetic counseling for both parents and children with this disorder cannot be overemphasized. This is because giving birth to one child with this condition means that there is an increased possibility of having another.
If the parents have the recessive genes for the condition they can be counseled on the dangers of giving birth to a child with this defect. This will ensure that the parents are fully aware of what they face if their child is diagnosed with the disorder.
Treatment is based on provision of close and regular support and so a close relationship with the medical personnel is very important . There is no total cure for the condition yet.
Parents of children with the Fraser Syndrome are advised to seek out support groups around them. This will alleviate the challenges faced to an extent. The local clinic should be able to provide information on such support groups.