About cockayne syndrome type ii

What is cockayne syndrome type ii?

Cerebro-oculo-facio-skeletal (COFS) syndrome is a genetic degenerative disorder of the brain and spinal cord that begins before birth. The disorder is characterized by growth failure at birth and little or no neurological development, structural abnormalities of the eye and fixed bending of the spine and joints. Abnormalities of the skull, face, limbs and other parts of the body may also occur. COFS syndrome is inherited as an autosomal recessive genetic trait. COFS is now considered to be part of the spectrum of disorders within Cockayne syndrome.

What are the symptoms for cockayne syndrome type ii?

Structural abnormalities symptom was found in the cockayne syndrome type ii condition

CS type I, the classical form, is characterized by a normal appearing newborn with symptoms that become apparent in the first wo years of life. Vision, hearing and nervous system functioning gets worse over time, resulting in severe disability.

CS type II, the congenital form, is more severe with obvious Growth failure at birth and little or no neurological development after birth. Serious vision impairments (cataracts and other Structural abnormalities of the eye) are usually present at birth.

CS type III is characterized by essentially normal growth and mental development during the early years, with onset of the typical symptoms of CS later in childhood or teen years. Affected individuals may also have problems with coordination, balance and speech (ataxia) and photosensitivity.

COFS syndrome includes the typical symptoms of CS as well as multiple joint contractures (arthrogryposis) and eye abnormalities.

Brain MRI on children with Cockayne syndrome shows white matter demyelination and cerebellar atrophy.

Children with Cockayne syndrome may have unusual physical features including an abnormally Small head (microcephaly), unusually thin nose, “hollow” or sunken appearance to the eyes, large misshapen ears, poor eyelid closure and/or the abnormal forward projection of both the upper and lower jaws (prognathism). There may be an unusual amount of dental decay due to the abnormal placement of the teeth. Affected individuals typically have large hands and feet and unusually long arms and legs in proportion to the size of their body. Joints may also be abnormally large and remain in a fixed position, and the spine may be curved outward when viewed from the side (kyphosis). Other features of Cockayne syndrome may include decreased Sweating (hypohidrosis), lack of proper tearing in the eyes and/or thin, dry hair.

Neurological symptoms may include rhythmic, quivering movements (tremors), an unsteady gait (ataxia), and/or the inability to coordinate movement. Affected children may experience varying degrees of intellectual disability, partial loss of hearing, and/or the progressive loss of previously acquired intellectual abilities.

The symptoms of Cockayne syndrome that affect the eyes may include progressive clouding of the lens of the eyes (cataracts), Loss of vision because of the wasting of the nerve fibers within the eyes (optic atrophy), Degeneration of the retina, and/or the abnormal accumulation of retinal coloration (pigmentation).

Some people with Cockayne syndrome also have an enlarged liver or spleen (hepatosplenomegaly), abnormally high blood pressure (hypertension), premature accumulation of fatty plaques on the walls of the arteries around the heart (arteriosclerotic disease) kidney disease and/or diabetes. Sexual maturation may be delayed.

What are the causes for cockayne syndrome type ii?

Cockayne syndrome is caused by changes (pathogenic variants) in the ERCC6 and ERCC8 genes. Pathogenic variants in ERCC6 account for about 65% of cases and pathogenic variants in ERCC8 cause about 35% of cases. These genes are involved in the normal repair of DNA that occurs after damage from ultraviolet light, which is the body’s natural defense against sunburn. Exposure to the ultraviolet component of sunlight damages DNA and because the cells are no longer able to repair the damaged DNA, it accumulates in the cells.

CS is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.

What are the treatments for cockayne syndrome type ii?

Treatment of Cockayne syndrome is symptomatic and supportive. A supportive team approach can benefit for children with CS and may include special education, physical therapy, and other medical, social, and/or vocational services. Genetic counseling is recommended for family members.

What are the risk factors for cockayne syndrome type ii?

Cockayne syndrome affects males and females in equal numbers and has been diagnosed in children from many different ethnic backgrounds. The incidence of CS has been estimated to be 2.7 per 1,000,000 births in western Europe, but it is probably underdiagnosed.

Is there a cure/medications for cockayne syndrome type ii?

There is no cure for Cockayne syndrome and medication is used as a support.

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