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 toenails | 90% |
| Aplasia/Hypoplasia of the eyebrow | 90% |
| Behavioral abnormality | 90% |
| Delayed skeletal maturation | 90% |
| Fine hair | 90% |
| Hypohidrosis | 90% |
| Hypothyroidism | 90% |
| Recurrent respiratory infections | 90% |
| Short stature | 90% |
| Lacrimation abnormality | 50% |
| Melanocytic nevus | 50% |
| Abnormal respiratory motile cilium morphology | - |
| Abnormality of skin pigmentation | - |
| Autosomal recessive inheritance | - |
| Ciliary dyskinesia | - |
| Hypohidrotic ectodermal dysplasia | - |
| Nail dysplasia | - |
| Primary hypothyroidism | - |
| Recurrent infections | - |
| Sparse eyebrow | - |
| Sparse scalp hair | - |
| Urticaria | - |
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.
2011 Cilia, Mucus & Mucociliary Interactions Gordon Research Conference
Sunday, February 13, 2011 -
Friday, February 18, 2011
Location:
Ventura,
CA
Description: By tradition, the work presented at a Gordon Research Conference (GRC) is expected to be at the frontiers of science and unpublished to ensure presentation of the most recent and novel data. This format allows presentation of the most recent “hottest” findings. No publication is permitted from these proceedings as per GRC guidelines.
Contact:
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
Primary Ciliary Dyskinesia and Overlapping Syndromes Thursday, September 30, 2010 -
Friday, October 1, 2010
Location: Eric P. Newman Education Center, Washington University Medical Center,
St. Louis,
MO
Description: The four main objectives of this international conference were to (1) optimize diagnosis of primary ciliary dyskinesia (PCD) through standardization of diagnostic testing, (2) define PCD genes and gene mutations through global networking, (3) optimize clinical care of PCD patients and develop clinical research networks to test therapies through clinical trials, and (4) refine nomenclature for ciliopathies and define overlapping features. Another goal was to establish PCD centers of excellence that will participate in research as well as clinical care. Given the lack of evidence in best clinical care, establishing a clinical trial network is urgently needed. Good medical management in a specialized PCD diagnostic and treatment center will probably provide the PCD patient with the best chance for preservation of lung function over time.
Contact: Dr. Susan Banks-Schlegel(301) 435-0202
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I have this condition and recently have been having symptoms that compare to hypothyroidism. With this condition is hypothyroidism seen very often? I would appreciate any information you could give me relating to hypohidrotic ectodermal dysplasia with hypothyroidism. See answer
