Rare Gastroenterology News

Disease Profile

X-linked hypohidrotic ectodermal dysplasia

Prevalence
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

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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
Hypertension
0000822
Short distal phalanx of finger
Short outermost finger bone
0009882
Type I diabetes mellitus
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
X-linked recessive inheritance
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

      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

        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.