Cleft lip and cleft palate with ectodermal dysplasia syndrome

disorder

SNOMED 716248001CUI C2931488

Overview

Cleft lip and cleft palate with ectodermal dysplasia 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.

2-4 finger cutaneous syndactyly

Always present (100%)HP:0010709

Cleft lip

Always present (100%)HP:0410030

Dry hair

Always present (100%)HP:0011359

Infantile eczema

Always present (100%)HP:0001047

Low-set ears

Always present (100%)HP:0000369

Cleft of upper lip

Very frequent (80-99%)HP:0000204

Ectodermal dysplasia

Very frequent (80-99%)HP:0000968

Large pinnae

Very frequent (80-99%)HP:0000400

Partial syndactyly

Very frequent (80-99%)HP:0006101

Syndactyly of feet

Very frequent (80-99%)HP:0001770

Abnormal vocalization

Frequent (30-79%)HP:0002167

Bilateral single transverse palmar creases

Frequent (30-79%)HP:0007598

Decreased activity of gonads

Frequent (30-79%)HP:0000135

Decreased hair growth

Frequent (30-79%)HP:0008070

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Dental cavities

Frequent (30-79%)HP:0000670

Dental problems

Frequent (30-79%)HP:0000164

Depressed cheekbone

Frequent (30-79%)HP:0010669

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Dystrophic fingernails

Frequent (30-79%)HP:0008391

Dystrophic nails

Frequent (30-79%)HP:0008404

Dystrophic toenails

Frequent (30-79%)HP:0001810

Hair loss

Frequent (30-79%)HP:0001596

Hypotrophic midface

Frequent (30-79%)HP:0011800

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Laterally sparse eyebrows

Frequent (30-79%)HP:0005338

Mental-retardation

Frequent (30-79%)HP:0001249

Misshapened teeth

Frequent (30-79%)HP:0006482

Pili torti

Frequent (30-79%)HP:0003777

Protruding ear

Frequent (30-79%)HP:0000411

Related Conditions

Ectodermal dysplasia(parent)

Cleft palate with cleft lip(parent)

Recessive hereditary disorder (autosomal)(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of the integument(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 716248001
UMLS CUI: C2931488
Fully Specified Name: Cleft lip and cleft palate with 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.