U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

Synonyms
Anhidrotic ectodermal dysplasia, autosomal recessive; Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal

Summary

Excerpted from the GeneReview: Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
J Timothy Wright
Dorothy K Grange
Mary Fete
view full author information

Available tests

25 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DL, ECTD10A, ECTD10B, ED1R, ED3, ED5, EDA-A1R, EDA1R, EDA3, HRM1, EDAR
    Summary: ectodysplasin A receptor

  • Also known as: CR, ECTD11A, ECTD11B, ED3, EDA3, EDARADD
    Summary: EDAR associated via death domain

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.