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Disease Profile
X-linked hypohidrotic ectodermal dysplasia
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.
1-9 / 1 000 000
Age of onset
Infancy
ICD-10
Q82.4
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
XHED; Ectodermal dysplasia 1; Hypohidrotic ectodermal dysplasia X-linked;
Categories
Congenital and Genetic Diseases; Eye diseases; Skin Diseases
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 | ||
Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ] |
0100840 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Everted upper lip vermilion |
Outward turned upper lip
|
0010803 |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] |
0000966 |
Microdontia |
Decreased width of tooth
|
0000691 |
Sparse body hair | 0002231 | |
30%-79% of people have these symptoms | ||
Frontal bossing | 0002007 | |
5%-29% of people have these symptoms | ||
Anterior hypopituitarism | 0000830 | |
0000822 | ||
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Type I |
Type 1 diabetes
Type I diabetes
[ more ] |
0100651 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal oral mucosa morphology |
Abnormality of lining of mouth
|
0011830 |
Absent eyebrow |
Failure of development of eyebrows
|
0002223 |
Absent eyelashes |
Failure of development of eyelashes
|
0000561 |
Absent nipple |
Absent nipples
|
0002561 |
Anhidrosis |
Lack of sweating
Sweating dysfunction
[ more ] |
0000970 |
Aplasia/Hypoplastia of the eccrine sweat glands | 0007592 | |
Brittle hair | 0002299 | |
Concave nail |
Spoon-shaped nails
|
0001598 |
Conical tooth |
Cone shaped tooth
Shark tooth
[ more ] |
0000698 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Dry skin | 0000958 | |
Dysphonia |
Inability to produce voice sounds
|
0001618 |
Eczema | 0000964 | |
Fever | 0001945 | |
Heat intolerance |
Intolerance to heat and fevers
|
0002046 |
Hoarse voice |
Hoarseness
Husky voice
[ more ] |
0001609 |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Hypohidrotic ectodermal dysplasia | 0007607 | |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
Hypoplastic nipples |
Small nipples
|
0002557 |
Hypoplastic-absent sebaceous glands | 0007411 | |
Periorbital hyperpigmentation |
Dark circles around the eyes
Dark circles under the eyes
Darkening around the eyes
Pigmentation around the eyes
[ more ] |
0001106 |
Periorbital wrinkles |
Wrinkles around the eyes
|
0000607 |
Prominent supraorbital ridges |
Prominent brow
|
0000336 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Rhinitis |
Nasal inflammation
|
0012384 |
Short chin |
Decreased height of chin
Short lower third of face
[ more ] |
0000331 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Soft skin | 0000977 | |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ] |
0000653 |
Sparse hair | 0008070 | |
Taurodontia | 0000679 | |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
Thin skin | 0000963 | |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
0001419 |
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.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
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
-
Canadian Ectodermal Dysplasia Syndromes Association (CEDSA)
124 Lochiel Street
Ontario , K7V 1W7 Canada
Telephone: +1-613-432-9732
E-mail: [email protected]
Website: https://www.ectodermaldysplasia.ca/ -
National Foundation for Ectodermal Dysplasias
6 Executive Drive
Suite 2
Fairview Heights, IL 62258-1360
Telephone: +1-618-566-2020
Fax: +1-618-566-4718
E-mail: [email protected]
Website: https://www.nfed.org/
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
- MedlinePlus Genetics contains information on X-linked hypohidrotic ectodermal dysplasia. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Socialstyrelsen: The National Board Of Health Welfare in Sweden has an information page on hypohidrotic ectodermal dysplasia. Click on the link above to view this information page.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 X-linked hypohidrotic ectodermal dysplasia. Click on the link to view a sample search on this topic.