Cockayne syndrome

What is Cockayne syndrome?

Cockayne syndrome is a rare genetic condition that is usually diagnosed within the first two years of life. This rare disease was first identified in 1936 and named after the doctor who identified it.

There are 3 types of the syndrome: Type A is the classic form of the disease, Type B is the most severe form of the disease, with Type C being the mildest form.

What gene change causes Cockayne syndrome?

⅔ of cases are caused by mutations to the ERCC6 gene. The remaining ⅓ are the result of mutations to the ERCC8 gene. It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Cockayne syndrome?

Symptoms vary in their severity according to the type of the syndrome diagnosed.

• Common physical symptoms include a small head and short stature.
• Unique facial characteristics include a long face, a small chin, sunken eyes, and big ears.
• Failure to thrive in infancy, followed by a failure to grow properly in later childhood is also a feature of the syndrome.
• The condition is progressive and most symptoms worsen with time. Other health conditions associated with the syndrome include issues with walking, an unstable gait, problems with balance, and abnormal reflexes.
• Epilepsy presents in some individuals with the condition, as does hearing loss, and sun sensitivity due to very thin skin.
• Individuals may also have issues with their liver, and kidneys and an inability to sweat.
• Genital abnormalities may present in males, and individuals with the disorder are unable to reproduce.
• Several intellectual disabilities, zero to very limited speech development, and premature ageing are also features of the syndrome.

Possible clinical traits/features:
Hypoplastic pelvis, Hypoplasia of teeth, Hypoplastic iliac wing, Hypogonadism, Opacification of the corneal stroma, Hepatomegaly, Kyphosis, Hypertension, Hypermetropia, Gait disturbance, Arrhythmia, Increased cellular sensitivity to UV light, Ivory epiphyses of the phalanges of the hand, Mandibular prognathia, Loss of facial adipose tissue, Irregular menstruation, Micropenis, Muscle weakness, Tremor, Intrauterine growth retardation, Intellectual disability, Abnormality of skin pigmentation, Cataract, Carious teeth, Anhidrosis, Abnormality of visual evoked potentials, Abnormality of the pinna, Cerebral atrophy, Ataxia, Atypical scarring of skin, Basal ganglia calcification, Severe postnatal growth retardation, Retinal pigment epithelial mottling, Sparse hair, Strabismus, Microcephaly, Progeroid facial appearance, Dry hair, Thickened calvaria, Square pelvis bone, Thymic hormone decreased, Reduced subcutaneous adipose tissue, Splenomegaly, Normal pressure hydrocephalus, Nystagmus, Sensorineural hearing impairment.

How is Cockayne syndrome diagnosed?

To find out if someone has a diagnosis of Cockayne syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.