Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome

disorder

SNOMED 716199000CUI C2931119

Overview

Delayed speech and facial asymmetry with strabismus and ear lobe skin crease 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.

Delayed language development

Very frequent (80-99%)HP:0000750

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Low-set ears

Very frequent (80-99%)HP:0000369

Outward facing eye ball

Very frequent (80-99%)HP:0000577

Squint

Very frequent (80-99%)HP:0000486

Transverse earlobe creases

Very frequent (80-99%)HP:0009908

Unbalanced face

Very frequent (80-99%)HP:0000324

Unilateral narrow palpebral fissure

Very frequent (80-99%)HP:0007946

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

High arched palate

Frequent (30-79%)HP:0000218

Increased length of philtrum

Frequent (30-79%)HP:0000343

Mental-retardation

Frequent (30-79%)HP:0001249

Nostrils anteverted

Occasional (5-29%)HP:0000463

Related Conditions

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

Slow to talk(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 716199000
UMLS CUI: C2931119
Fully Specified Name: Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.