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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.

Absent eyebrows
Always present (100%)HP:0002223
Absent lacrimal puncta
Always present (100%)HP:0001092
Accessory nipples
Always present (100%)HP:0002558
Cleft of palate
Always present (100%)HP:0000175
Cleft of upper lip
Always present (100%)HP:0000204
Cutaneous 2,3 toe syndactyly
Always present (100%)HP:0005709
Dark circles under the eyes
Always present (100%)HP:0001106
Dyschezia
Always present (100%)HP:0002019
Dystrophic nails
Always present (100%)HP:0008404
Enamel dysplasia
Always present (100%)HP:0006297
Fine hair
Always present (100%)HP:0002213
Flat nasal bridge
Always present (100%)HP:0005280
Keratoderma
Always present (100%)HP:0000982
Narrow ear canal
Always present (100%)HP:0000402
Narrow mouth
Always present (100%)HP:0000160
Pyrexia
Always present (100%)HP:0001945
Rotting teeth
Always present (100%)HP:0000670
Slow rate of hair growth
Always present (100%)HP:0002217
Taurodont
Always present (100%)HP:0000679
Uncombable hair
Always present (100%)HP:0030056
Wrinkles around the eyes
Always present (100%)HP:0000607
Xerosis
Always present (100%)HP:0000958
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 problems
Very frequent (80-99%)HP:0000164
Eclabium of lower lip
Very frequent (80-99%)HP:0000232
Misshapened teeth
Very frequent (80-99%)HP:0006482
Missing between one and six teeth
Very frequent (80-99%)HP:0000668
Premature exfoliation of primary teeth
Very frequent (80-99%)HP:0006323

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.