Hay-Wells syndrome is a form of ectodermal dysplasia, a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. The most common feature is missing patches of skin (erosions) on the scalp, neck, hands, and feet. The skin erosions can lead to infection, scarring, and hair loss. Other features include changes in skin coloring; misshapen or absent fingernails and toenails; malformed or missing teeth; increased sensitivity to heat; hearing loss; cleft lip and/or palate; and other facial abnormalities. This condition is caused by mutations in the TP63 gene and is inherited in an autosomal dominant fashion.
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 hair quantity||90%|
|Abnormality of the fingernails||90%|
|Abnormality of the nose||90%|
|Abnormality of the palpebral fissures||90%|
|Abnormality of the toenails||90%|
|Non-midline cleft lip||90%|
|Abnormality of dental enamel||50%|
|Abnormality of dental morphology||50%|
|Abnormality of the eyelashes||50%|
|Aplasia/Hypoplasia of the eyebrow||50%|
|Reduced number of teeth||50%|
|Abnormality of the pinna||7.5%|
|Abnormality of the voice||7.5%|
|Clinodactyly of the 5th finger||7.5%|
|Conductive hearing impairment||7.5%|
|Delayed eruption of teeth||7.5%|
|Ventricular septal defect||7.5%|
|2-3 toe syndactyly||-|
|Abnormality of the nervous system||-|
|Atresia of the external auditory canal||-|
|Autosomal dominant inheritance||-|
|Cleft upper lip||-|
|Hyperpigmentation of the skin||-|
|Hypoplasia of the maxilla||-|
|Lacrimal duct atresia||-|
|Patent ductus arteriosus||-|
|Selective tooth agenesis||-|
|Sparse body hair||-|
|Wide nasal bridge||-|
|Widely spaced teeth||-|
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.
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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.
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