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

Wells-Jankovic syndrome


Other Names:
Familial spastic paraparesis and deafness; Spastic paraparesis - deafness
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2815

Definition
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.

Visit the Orphanet disease page for more resources.
Last updated: 8/1/2019

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
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Hyperreflexia
Increased reflexes
0001347
Impaired pain sensation
Decreased pain sensation
0007328
Sensorineural hearing impairment 0000407
Spastic paraparesis 0002313
30%-79% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Hypogonadism
Decreased activity of gonads
0000135
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
5%-29% of people have these symptoms
Ataxia 0001251
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Percent of people who have these symptoms is not available through HPO
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Tremor 0001337
X-linked inheritance 0001417
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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 Wells-Jankovic syndrome. Click on the link to view a sample search on this topic.

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