Ectodermal dysplasia-ocular malformation syndrome

disorder

SNOMED 31291009CUI C0812437

Overview

Ectodermal dysplasia-ocular malformation syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Decreased size of eyeball

Always present (100%)HP:0000568

Uveitis

Always present (100%)HP:0000554

Cleft of palate

Very frequent (80-99%)HP:0000175

Decreased corneal diameter

Very frequent (80-99%)HP:0000482

Dental agenesis

Very frequent (80-99%)HP:0009804

Dystrophic tooth enamel

Very frequent (80-99%)HP:0000682

Ear anomaly

Very frequent (80-99%)HP:0000598

Hyperplasia of columella

Very frequent (80-99%)HP:0010761

Joint contracture of the 5th finger

Very frequent (80-99%)HP:0009183

Nasal bridge, thin

Very frequent (80-99%)HP:0000446

Nasal deformity

Very frequent (80-99%)HP:0000366

Partial syndactyly

Very frequent (80-99%)HP:0006101

Permanent curving of the pinkie finger

Very frequent (80-99%)HP:0004209

Premature exfoliation of primary teeth

Very frequent (80-99%)HP:0006323

Rotting teeth

Very frequent (80-99%)HP:0000670

Small nasal alae

Very frequent (80-99%)HP:0000430

Syndactyly of feet

Very frequent (80-99%)HP:0001770

Abnormal compact bone morphology

Frequent (30-79%)HP:0003103

Abnormal deposits of calcium in the brain

Frequent (30-79%)HP:0002514

Abnormal eye

Frequent (30-79%)HP:0000478

Abnormal metaphysis morphology

Frequent (30-79%)HP:0000944

Abnormal nail morphology

Frequent (30-79%)HP:0001597

Abnormality of the fingernails

Frequent (30-79%)HP:0001231

Abnormality of vision

Frequent (30-79%)HP:0000504

Ataxia

Frequent (30-79%)HP:0001251

Bone overgrowth

Frequent (30-79%)HP:0100774

Cerebellar hypoplasia/atrophy

Frequent (30-79%)HP:0007360

Curly hair

Frequent (30-79%)HP:0002212

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dysplastic ears

Frequent (30-79%)HP:0000377

Related Conditions

Ectodermal dysplasia(parent)

Quick Facts

SNOMED CT: 31291009
UMLS CUI: C0812437
Fully Specified Name: Ectodermal dysplasia-ocular malformation 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.