About deafness-dwarfism-retinal atrophy
What is deafness-dwarfism-retinal atrophy?
Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria). In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenital form of Cockayne Syndrome (CS type II) is apparent at birth (congenital). There is a third form, known as Cockayne Syndrome Type III (CS type III), that presents later in the child's development and is generally a milder form of the disease. A fourth form; now recognized as Xeroderma pigmentosa-Cockayne syndrome (XP-CS), combines features of both of these disorders.
What are the symptoms for deafness-dwarfism-retinal atrophy?
Deafness-dwarfism-retinal atrophy or Cockayne syndrome is a rare disorder characterized by an abnormally Small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very Short stature, and delayed development.
1. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time.
2. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases, even a small amount of sun exposure can cause a sunburn or blistering of the skin.
3. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.
4. People with Cockayne syndrome have a serious reaction to an antibiotic medication called metronidazole. If affected individuals take this medication, it can cause life-threatening liver failure
5. 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).
6. Some people with Cockayne syndrome also have an Enlarged liver or spleen (hepatosplenomegaly), abnormally High blood pressure (hypertension), and premature accumulation of fatty plaques on the walls of the arteries around the heart (arteriosclerotic disease) kidney disease and/or diabetes.
7. Sexual maturation may be delayed.
Symptoms
Small head size (microcephaly),A failure to gain weight and grow at the expected rate (failure to thrive) leading to very Short stature,Delayed development
Conditions
Hearing loss,Vision loss,Severe tooth decay,Bone abnormalities,Hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans
Drugs
Symptomatic and supportive therapy like hearing aids,Speech therapy
What are the causes for deafness-dwarfism-retinal atrophy?
Deafness-dwarfism-retinal atrophy is caused by changes (pathogenic variants) in the ERCC6 and ERCC8 genes.
1. Pathogenic variants in ERCC6 account for about 65% of cases and pathogenic variants in ERCC8 cause about 35% of cases.
2. 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
3. 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.
4. CS is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent.
5. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier of 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.
6. The risk of having 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.
Symptoms
Small head size (microcephaly),A failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature,Delayed development
Conditions
Hearing loss,Vision loss,Severe tooth decay,Bone abnormalities,Hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans
Drugs
Symptomatic and supportive therapy like hearing aids,Speech therapy
What are the treatments for deafness-dwarfism-retinal atrophy?
Deafness-dwarfism-retinal atrophy or Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
1. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time.
2. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases, even a small amount of sun exposure can cause a sunburn or blistering of the skin.
3. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.
4. People with Cockayne syndrome have a serious reaction to an antibiotic medication called metronidazole.
5. If affected individuals take this medication, it can cause life-threatening liver failure
Treatment of is deafness-dwarfism-retinal atrophy symptomatic and supportive.
6. A supportive team approach can benefit children with CS and may include special education, physical therapy, and other medical, social, and/or vocational services.
7. Genetic counseling is recommended for family members.
Symptoms
Small head size (microcephaly),A failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature,Delayed development
Conditions
Hearing loss,Vision loss,Severe tooth decay,Bone abnormalities,Hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans
Drugs
Symptomatic and supportive therapy like hearing aids,Speech therapy
What are the risk factors for deafness-dwarfism-retinal atrophy?
Deafness-dwarfism-retinal atrophy or Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
Risk factors:
1. Cockayne syndrome is estimated to occur in 2 to 3 per million newborns in the United States and Europe.
2. CS is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent.
3. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier of the disease, but usually will not show symptoms.
4. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy.
5. The risk of having a child who is a carrier, like the parents, is 50% with each pregnancy.
6. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females
Symptoms
Small head size (microcephaly),A failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature,Delayed development
Conditions
Hearing loss,Vision loss,Severe tooth decay,Bone abnormalities,Hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans
Drugs
Symptomatic and supportive therapy like hearing aids,Speech therapy
Is there a cure/medications for deafness-dwarfism-retinal atrophy?
Deafness-dwarfism-retinal atrophy or Cockayne syndrome treatment/management must start as soon as possible and be multidisciplinary. It is symptomatic and aims primarily to prevent complications.
1. Feeding Assistance: Most babies need help to feed themselves enough during the first months of life. Muscle weakness and neurological impairment may prevent some children from eating enough. The use of a nasogastric tube or even gastrostomy is sometimes necessary.
2. Treatment of Ocular Anomalies: Cataracts can be treated through surgery to remove the opaque lens. Implantation of a transparent artificial lens (graft) is not recommended. Strabismus, when it exists, must be taken care of very early. The treatment is based on re-education sessions with the help of an orthoptist. The masking of the healthy eye (occlusion), by an eye mask or an opaque eyeglass lens, makes it possible to force the affected eye to work. Surgery may be necessary to remove or reduce a persistent deviation.
3. Dental Care: A dentist should regularly monitor children because of their sensitivity to caries. This will provide the appropriate care as needed.
4. Prevention Against the Sun's Harmful Effects: Affected individuals need to protect themselves from UV light. It should also be known that some artificial lights, including neon and halogen, emit harmful UV radiation, which patients must be protected from.
Other Measures
1. Hearing disorders may require the introduction of the auditory prosthesis. The equipment must be accompanied by orthopneic sessions, which must begin early. This re-education is also essential in the acquisition of reading and writing.
2. Most patients require psychomotor rehabilitation and physiotherapy appropriate to the degree of their impairment. Some equipment may be necessary to maintain and support the body in a good position and allow movement
Symptoms
Small head size (microcephaly),A failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature,Delayed development
Conditions
Hearing loss,Vision loss,Severe tooth decay,Bone abnormalities,Hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans
Drugs
Symptomatic and supportive therapy like hearing aids,Speech therapy