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

Weyers acrofacial dysostosis


Other Names:
Acrofacial dysostosis of Weyers; Curry Hall syndrome
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 952

Definition
A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2015

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
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails
[ more ] 		0001231
Abnormal oral frenulum morphology 0000190
Advanced eruption of teeth
Early eruption of teeth
0006288
Conical tooth
Cone shaped tooth
Shark tooth
[ more ] 		0000698
Hypodontia
Failure of development of between one and six teeth
0000668
Hypoplastic toenails
Underdeveloped toenails
0001800
Mild short stature 0003502
Nail dystrophy
Poor nail formation
0008404
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] 		0001162
Single median maxillary incisor
Only one upper front tooth
0006315
Toenail dysplasia
Abnormal toenail development
0100797
30%-79% of people have these symptoms
Abnormality of the antihelix 0009738
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Facial cleft
Cleft of the face
0002006
Overlapping fingers 0010557
Small hand
Disproportionately small hands
0200055
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Brachydactyly
Short fingers or toes
0001156
Hypotelorism
Abnormally close eyes
Closely spaced eyes
[ more ] 		0000601
Nail dysplasia
Atypical nail growth
0002164
Postaxial foot polydactyly
Extra toe attached near the little toe
0001830
Prominent antihelix 0000395
Short palm 0004279
Small nail
Small nails
0001792
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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.

Where to Start

  • Genetics Home Reference (GHR) contains information on Weyers acrofacial dysostosis. This website is maintained by the National Library of Medicine.

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 Weyers acrofacial dysostosis. Click on the link to view a sample search on this topic.

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