National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Reardon Wilson Cavanagh syndrome


Other Names:
Familial ataxia, deafness, and developmental delay; Ataxia, hearing loss, and mental retardation; Ataxia-deafness-retardation syndrome; Familial ataxia, deafness, and developmental delay; Ataxia, hearing loss, and mental retardation; Ataxia-deafness-retardation syndrome; ADR syndrome See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1188

Definition
This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.

Epidemiology
It has been described in two families.

Differential diagnosis
The clinical picture is similar to that seen in Richards-Rundle syndrome (see this term).

Genetic counseling
Transmission may be X-linked recessive.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2007

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Ataxia 0001251
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Sensorineural hearing impairment 0000407
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
30%-79% of people have these symptoms
Abnormal palate morphology
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] 		0000174
Aplasia/Hypoplasia of the cerebellum
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] 		0007360
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Decreased nerve conduction velocity 0000762
EMG abnormality 0003457
Muscular hypotonia
Low or weak muscle tone
0001252
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ] 		0002167
Reduced tendon reflexes 0001315
Scoliosis 0002650
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Ventriculomegaly 0002119
5%-29% of people have these symptoms
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Progressive sensorineural hearing impairment 0000408
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

In-Depth Information

  • 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. 
  • 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 Reardon Wilson Cavanagh syndrome. Click on the link to view a sample search on this topic.

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