Cockayne syndrome type I

Title

Other Names:

Cockayne syndrome type A; Cockayne syndrome classical; Cockayne syndrome classic form

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Nervous System Diseases; Rare Cancers; Skin Diseases See More

Summary Summary

Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay.^[1] This syndrome also includes failure to thrive in the newborn, very small head (microcephaly), and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, vision problems, and bone abnormalities.^[2] There are three subtypes according to the severity of the disease and the onset of the symptoms:^[2]^[3]

Cockayne syndrome type 1 (type A), sometimes called “classic” or "moderate" Cockayne syndrome, diagnosed during early childhood
Cockayne syndrome type 2 (type B), sometimes referred to as the “severe” or "early-onset" type, presenting with growth and developmental abnormalities at birth
Cockayne syndrome type 3 (type C), a milder form of the disorder

Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes. Inheritance is autosomal recessive.^[2] Type 2 is the most severe and affected people usually do not survive past childhood. Those with type 3 live into middle adulthood.^[1] There is no cure yet. Treatment is supportive and may include educational programs for developmental delay, physical therapy, gastrostomy tube placement as needed; medications for spasticity and tremor as needed; use of sunscreens and sunglasses; treatment of hearing loss and cataracts; and other forms of treatment, as needed.^[3]

Last updated: 9/7/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormal auditory evoked potentials	-
Abnormality of skin pigmentation	-
Abnormality of the pinna	-
Abnormality of visual evoked potentials	-
Anhidrosis	-
Arrhythmia	-
Ataxia	-
Atypical scarring of skin	-
Autosomal recessive inheritance	-
Basal ganglia calcification	-
Carious teeth	-
Cataract	-
Cerebral atrophy	-
Cryptorchidism	-
Cutaneous photosensitivity	-
Decreased lacrimation	-
Decreased nerve conduction velocity	-
Delayed eruption of primary teeth	-
Dementia	-
Dental malocclusion	-
Dry hair	-
Dry skin	-
Dysarthria	-
Gait disturbance	-
Hepatomegaly	-
Heterogeneous	-
Hypermetropia	-
Hypertension	-
Hypogonadism	-
Hypoplasia of teeth	-
Hypoplastic iliac wing	-
Hypoplastic pelvis	-
Increased cellular sensitivity to UV light	-
Intellectual disability	-
Intrauterine growth retardation	-
Ivory epiphyses of the phalanges of the hand	-
Kyphosis	-
Limitation of joint mobility	-
Loss of facial adipose tissue	-
Menstrual irregularities	-
Microcephaly	-
Micropenis	-
Normal pressure hydrocephalus	-
Nystagmus	-
Opacification of the corneal stroma	-
Optic atrophy	-
Patchy demyelination of subcortical white matter	-
Peripheral dysmyelination	-
Pigmentary retinopathy	-
Polyneuropathy	-
Progeroid facial appearance	-
Proteinuria	-
Reduced subcutaneous adipose tissue	-
Renal insufficiency	-
Retinal pigment epithelial mottling	-
Seizures	-
Sensorineural hearing impairment	-
Severe postnatal growth retardation	-
Slender nose	-
Sparse hair	-
Splenomegaly	-
Square pelvis bone	-
Strabismus	-
Thymic hormone decreased	-
Tremor	-

Last updated: 9/1/2017

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Do you have updated information on this condition? Let us know.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Share and Care Cockayne Syndrome Network Inc.
P.O. Box 282
c/o Jackie Clark, President & Executive Director
Waterford, VA 20197
Telephone: 703-727-0404
E-mail: cockaynesyndrome@gmail.com
Website: http://cockaynesyndrome.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Cockayne syndrome type I. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
The Online Mendelian Inheritance in Man (OMIM)
GeneTests
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Cockayne syndrome type I. Click on the link to view a sample search on this topic.

News & Events News & Events

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August 31, 2017
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Related Diseases Related Diseases

The following diseases are related to Cockayne syndrome type I. If you have a question about any of these diseases, you can contact GARD.

Cockayne syndrome

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