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)|
|Abnormality of nail color||90%|
|Abnormality of the fingernails||90%|
|Abnormality of the toenails||90%|
|Abnormal blistering of the skin||50%|
|Neoplasm of the skin||50%|
|Autosomal dominant inheritance||-|
|Onychogryposis of toenails||-|
|Sparse and thin eyebrow||-|
|Sparse scalp hair||-|
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.
GARD Information Navigator
May 10, 2016
Pediatric Dermatology Research Alliance (PeDRA) Annual Conference
Friday, October 18, 2013 -
Sunday, October 20, 2013
Location: Westin O’Hare Hotel , Rosemont, IL
Description: The goals of the PEDRA annual meetings are to provide an educational platform that will enhance the research skills of PeDRA investigators and establish a forum for the critical review of research proposals developed by PeDRA disease-focused groups and to create a bridge between basic scientists and clinicians to enhance opportunities for research. Each group will identify and prioritize the clinical needs and therapeutic opportunities.
Contact: Carl C. Baker(301) 435-1240
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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How many types of pachyonychia congenita are there? How are they caused? How many individuals have this condition and what is the mortality rate? See answer