Disease Profile

Vohwinkel syndrome

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of Onset

Childhood

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ICD-10

Q82.8

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Deafness, congenital, with keratopachydermia and constrictions of fingers and toes; Mutilating keratoderma; Keratoderma hereditarium mutilans;

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Skin Diseases

Summary

Vohwinkel syndrome is an inherited condition that affects the skin. People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. A "variant form" of Vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss.[1][2] Classic Vohwinkel syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene. Both are inherited in an autosomal dominant manner.[1] Although there is currently no cure for the condition, treatments are available to alleviate symptoms.[2][3]

Symptoms

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Amniotic constriction ring
0009775
Autoamputation of digits
0007460
Honeycomb palmoplantar keratoderma
0007465
Sensorineural hearing impairment
0000407
30%-79% of people have these symptoms
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Hypogonadotropic hypogonadism
0000044
5%-29% of people have these symptoms
Abnormal toenail morphology
Abnormality of the toenail
Abnormality of the toenails

[ more ]

0008388
Abnormality of the spinal cord
0002143
Alopecia
Hair loss
0001596
Cleft palate
Cleft roof of mouth
0000175
Ichthyosis
0008064
Osteolysis
Breakdown of bone
0002797
Papule
0200034
Self-injurious behavior
Self-injurious behaviour
0100716
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365

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.

    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

      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

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
      • Genetics Home Reference (GHR) contains information on Vohwinkel syndrome. This website is maintained by the National Library of Medicine.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • 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 Vohwinkel syndrome. Click on the link to view a sample search on this topic.

          References

          1. Vohwinkel syndrome. Genetics Home Reference. November 2012; https://ghr.nlm.nih.gov/condition/vohwinkel-syndrome.
          2. Zoltan Trizna, MD, PhD. Vohwinkel Syndrome. Medscape Reference. January 2015; https://emedicine.medscape.com/article/1108458-overview.
          3. Diffuse hereditary palmoplantar keratodermas. DermNet NZ. September 2015; https://dermnetnz.org/scaly/diffuse-keratoderma.html.