Symptoms Of Fraser Syndrome To Watch For

Fraser syndrome is a rare type of genetic disorder generally characterized by fused eyelids, fusing of the skin found between the toes and fingers, and abnormalities found in the urinary tract. Symptoms and signs tend to show up early in the development. They may also include respiratory tract abnormalities, failure of the kidneys to develop properly, abnormalities of the ear and nose, a cleft lip, skeletal abnormalities, and intellectual disability. In particularly severe cases, Fraser syndrome might be fatal before a child is born or shortly after their birth. When an individual is less severely affected, they can live into childhood or sometimes even adulthood. Fraser syndrome's primary cause is mutations in three genes.

These are the main symptoms of Fraser syndrome.

Complete Fusion Of Eyelids

Complete fusion of the eyelids is one of the most characteristic signs of Fraser syndrome. This condition, otherwise known as cryptophthalmos, will generally cause eyes to appear as though they have been completely covered in skin. The eyes themselves will usually have some malformation. It's common for the eyes to be too small for the face, or for the eyes to be missing entirely. In addition, the tear ducts might be malformed or fail to develop at all. There is sometimes an increased distance between the patient's eyes. All of these combined symptoms tend to lead to vision loss if the patient had the capacity for vision in the first place. It's common for Fraser syndrome patients to be completely blind.

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Webbed Fingers Or Toes

Webbed fingers or toes occur when the skin between the digits fuses. This condition is known as syndactyly, which is the most common malformation of the limbs a child might be born with, occurring in about one in every two thousand births. The condition occurs when the fingers don't separate into individual digits. In most healthy babies, the separation of the fingers occurs between the sixth and eighth weeks of embryonic development. Syndactyly isn't always a sign of Fraser syndrome, as it can happen on its own. It's also common for this phenomenon to occur with cleft lips or cleft hands. This feature occurs in more than twenty-eight different syndromes.

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Missing Or Malformed Kidneys

Missing or malformed kidneys are another common sign of Fraser syndrome. It's common for the kidneys to develop improperly, not develop fully, or fail to develop. These conditions are referred to as renal malformations. The voicebox will often have abnormal development, as will the trachea. The chest and abdomen might present with umbilical abnormalities and widely spaced nipples. There will also usually be abnormalities in the patient's urinary tract and airway. Scoliosis is common, as are missing ribs and separation of the patient's pubic bones.

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Mental Impairment

Many neurological issues can occur as a result of Fraser syndrome, with mental impairment being just one of them. The head may be too small and underdeveloped for the brain to develop fully. In addition, it's common for patients to have spina bifida. Intellectual disability is the final most common neurological complication. It's one of many syndromes that can cause a severe level of mental impairment in the patient. The exact type of mental deficiency varies from case to case, as it depends heavily on how the brain has developed. Some patients have more developed areas of their brain than others.

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Eyelid Duct Malformation

As previously mentioned, there are multiple potential impairments to the eyes that can result in vision loss and total blindness. The eyes will often be too small or fail to form altogether. There will also commonly be eyelid duct malformation, in which the tear ducts don't function properly or don't exist at all. This is referred to as a malformation or absence of the lacrimal ducts.

Other symptoms may show up on the face. The patient might be missing their eyelashes or eyebrows. Their ear structure might also be malformed, which can lead to hearing loss. It's common for the nose to have abnormally-shaped and small nostrils, while the mouth might have tooth crowding or a cleft lip.