Ectrodactyly-ectodermal dysplasia-clefting syndrome

disorder

SNOMED 39788007CUI C0406704

Overview

Ectrodactyly-ectodermal dysplasia-clefting 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 tear production

Very frequent (80-99%)HP:0000632

Absent lacrimal puncta

Very frequent (80-99%)HP:0001092

Dental agenesis

Very frequent (80-99%)HP:0009804

Dental cavities

Very frequent (80-99%)HP:0000670

Dystrophic nails

Very frequent (80-99%)HP:0008404

Dystrophic tooth enamel

Very frequent (80-99%)HP:0000682

Epidermal hyperkeratosis

Very frequent (80-99%)HP:0000962

Foot ectrodactyly

Very frequent (80-99%)HP:0001839

Lobster claw hand

Very frequent (80-99%)HP:0100257

Nail pitting

Very frequent (80-99%)HP:0001803

Rough hair texture

Very frequent (80-99%)HP:0002208

Small teeth

Very frequent (80-99%)HP:0000691

Sparse eyebrow

Very frequent (80-99%)HP:0045075

Split hand

Very frequent (80-99%)HP:0001171

Taurodont

Very frequent (80-99%)HP:0000679

Thick eyebrow

Very frequent (80-99%)HP:0000574

Xerosis

Very frequent (80-99%)HP:0000958

Absent urethral opening

Frequent (30-79%)HP:0000068

Aplasia/Hypoplasia of the skin

Frequent (30-79%)HP:0008065

Blepharitis

Frequent (30-79%)HP:0000498

Cleft lip

Frequent (30-79%)HP:0410030

Cleft lip, cleft palate

Frequent (30-79%)HP:0000202

Corneal erosion

Frequent (30-79%)HP:0200020

Corneal inflammation

Frequent (30-79%)HP:0000491

Dacrocystitis

Frequent (30-79%)HP:0000620

Duplication of hand bones

Frequent (30-79%)HP:0004275

Ectodermal dysplasia

Frequent (30-79%)HP:0000968

Fair skin

Frequent (30-79%)HP:0007513

Hydronephrosis

Frequent (30-79%)HP:0000126

Inflammatory abnormality of the eye

Frequent (30-79%)HP:0100533

Related Conditions

Ectrodactyly(parent)

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

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Skin lesion(parent)

Quick Facts

SNOMED CT: 39788007
UMLS CUI: C0406704
Fully Specified Name: Ectrodactyly-ectodermal dysplasia-clefting 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.