Autosomal dominant hypohidrotic ectodermal dysplasia syndrome

disorder

SNOMED 7731005CUI C0265331

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Accessory nipples

Always present (100%)HP:0002558

Agenesis of the lacrimal punctum

Always present (100%)HP:0001092

Cleft of palate

Always present (100%)HP:0000175

Cleft of upper lip

Always present (100%)HP:0000204

Concave bridge of nose

Always present (100%)HP:0005280

Constipation

Always present (100%)HP:0002019

Cutaneous 2,3 toe syndactyly

Always present (100%)HP:0005709

Dark circles under the eyes

Always present (100%)HP:0001106

Dental cavities

Always present (100%)HP:0000670

Dystrophic nails

Always present (100%)HP:0008404

Fine hair

Always present (100%)HP:0002213

Keratoderma

Always present (100%)HP:0000982

Loss of eyebrows

Always present (100%)HP:0002223

Narrow external auditory meatus

Always present (100%)HP:0000402

Narrow mouth

Always present (100%)HP:0000160

Pyrexia

Always present (100%)HP:0001945

Slow rate of hair growth

Always present (100%)HP:0002217

Taurodont

Always present (100%)HP:0000679

Thin dental enamel

Always present (100%)HP:0006297

Uncombable hair

Always present (100%)HP:0030056

Wrinkles around the eyes

Always present (100%)HP:0000607

Xerosis

Always present (100%)HP:0000958

Absence of eyebrow

Very frequent (80-99%)HP:0100840

Decreased sweating

Very frequent (80-99%)HP:0000966

Decreased width of tooth

Very frequent (80-99%)HP:0000691

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Dental anomalies

Very frequent (80-99%)HP:0000164

Hypotrichosis

Very frequent (80-99%)HP:0008070

Misshapened teeth

Very frequent (80-99%)HP:0006482

Missing between one and six teeth

Very frequent (80-99%)HP:0000668

Related Conditions

Hereditary disorder of the integument(parent)

Ectodermal dysplasia with hair-tooth-nail-sweating defect(parent)

Autosomal dominant hereditary disorder(parent)

Skin lesion(parent)

Genetic disorder of nail(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of tooth(parent)

Quick Facts

SNOMED CT: 7731005
UMLS CUI: C0265331
Fully Specified Name: Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.