Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome

disorder

SNOMED 720856002CUI C1857041

Overview

Ectodermal dysplasia with ectrodactyly and macular dystrophy 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.

Abnormality of RPE

Very frequent (80-99%)HP:0007703

Lobster claw hand

Very frequent (80-99%)HP:0100257

Macular dystrophy

Very frequent (80-99%)HP:0007754

Misshapened teeth

Very frequent (80-99%)HP:0006482

Noninflammatory retina disease

Very frequent (80-99%)HP:0000488

Sparse body hair

Very frequent (80-99%)HP:0002231

Thinning scalp hair

Very frequent (80-99%)HP:0002209

Abnormal eye

Frequent (30-79%)HP:0000478

Abnormality of vision

Frequent (30-79%)HP:0000504

Agenesis of a tooth

Frequent (30-79%)HP:0001592

Decreased width of tooth

Frequent (30-79%)HP:0000691

Loss of eyebrows

Frequent (30-79%)HP:0002223

Partial syndactyly

Frequent (30-79%)HP:0006101

Rotting teeth

Frequent (30-79%)HP:0000670

Wide-spaced teeth

Frequent (30-79%)HP:0000687

2-3 finger cutaneous syndactyly

Occasional (5-29%)HP:0001233

2-4 finger cutaneous syndactyly

Occasional (5-29%)HP:0010709

3-4 finger cutaneous syndactyly

Occasional (5-29%)HP:0011939

3-4 toe syndactyly

Occasional (5-29%)HP:0009779

Split hand

Occasional (5-29%)HP:0001171

Squint

Occasional (5-29%)HP:0000486

Webbed 1st-4th finger

Occasional (5-29%)HP:0010707

Camptodactyly

HP:0012385

Contractures of the hands

HP:0009473

Ectodermal dysplasia

HP:0000968

Hyperhidrosis

Excluded (<1%)HP:0000975

Sparse eyebrow

HP:0045075

Thin eyelashes

HP:0000653

Related Conditions

Ectodermal dysplasia(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Ectrodactyly(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary macular dystrophy(parent)

Hereditary disorder of the integument(parent)

Congenital anomaly of macula(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 720856002
UMLS CUI: C1857041
Fully Specified Name: Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.