About neill-dingwall syndrome
What is neill-dingwall syndrome?
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 neill-dingwall syndrome?
Photophobia symptom was found in the neill-dingwall syndrome 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 neill-dingwall syndrome?
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 neill-dingwall syndrome?
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 neill-dingwall syndrome?
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 neill-dingwall syndrome?
Neill-Dingwall syndrome, also known as Cockayne syndrome, is a disorder characterized by a variety of clinical features, including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties. It is an autosomal recessive genetic disorder, which leads to death by the age of 12 years on average. Due to neurological manifestations, diagnosis of hearing loss and vision impairment becomes difficult in children.
There is no treatment available to reverse the progression of the disease. However, the symptoms can be treated to improve the quality of life.
1. Ophthalmic symptoms:
• Annual eye exams with fundoscopy for retinal abnormalities and evaluation for cataracts are advisable after the diagnosis of the syndrome.
• Doctors advise cataract surgeries before the onset of retinal dystrophy to reduce the risk of vision loss.
• Sunscreen may help prevent adverse effects of photosensitivity,
2. Hearing loss:
In children, a hearing evaluation is done with pure tone and behavioral audiometry tests.
A cochlear implant is a solution for hearing disabilities.
Physical therapy is effective in preventing the progression of contractures.
The babies may need feeding tubes due to swallowing difficulties.
Hearing loss,Retinal degeneration,Cataract (congenital or infantile development),Corneal opacification,Photophobia,Microcephaly,Growth retardation,Neurogenic bladder,Muscle atrophy,Hyperreflexia or areflexia,Locomotion disturbances,Motor dysfunction, and ambulatory difficulties,Seizure disorders and tremors,Hypertension,Muscle wasting