Hypertelorism with microtia and facial clefting syndrome

disorder

SNOMED 721836009CUI C0220742

Overview

Hypertelorism with microtia and facial 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.

Central cleft palate

Very frequent (80-99%)HP:0009099

Decreased size of cranium

Very frequent (80-99%)HP:0000252

External auditory meatal atresia

Very frequent (80-99%)HP:0000413

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Microtia

Very frequent (80-99%)HP:0008551

Crossed fused renal ectopia

Frequent (30-79%)HP:0004736

Dull intelligence

Frequent (30-79%)HP:0001249

Hearing loss, conductive

Frequent (30-79%)HP:0000405

Horseshoe kidney

Frequent (30-79%)HP:0000085

Mental and motor retardation

Frequent (30-79%)HP:0001263

Short stature, severe

Frequent (30-79%)HP:0003510

Specific learning disability

Frequent (30-79%)HP:0001328

Thenar muscle atrophy

Frequent (30-79%)HP:0003393

Bifid tip of nose

Occasional (5-29%)HP:0000456

Abnormality of cardiovascular system morphology

HP:0030680

Abnormality of the backbone

HP:0000925

Broad, upturned nose

HP:0000455

Cardiac anomaly

HP:0001627

Cleft of palate

HP:0000175

Cleft of upper lip

HP:0000204

Decreased projection of mandible

HP:0000347

Decreased thenar eminence

HP:0001245

Ectopic kidney

HP:0000086

Hypoplastic/small little finger

HP:0009237

Indented bridge of nose

HP:0011803

Multiple vertebral anomalies

HP:0003468

Narrow mouth

HP:0000160

partial or complete syndactyly 2nd-3rd toes

HP:0004691

Tessier cleft

HP:0002006

Related Conditions

Orbital hypertelorism(parent)

Microtia(parent)

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

Cleft palate with cleft lip(parent)

Recessive hereditary disorder (autosomal)(parent)

Auditory system hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 721836009
UMLS CUI: C0220742
Fully Specified Name: Hypertelorism with microtia and facial clefting syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.