Deafness craniofacial syndrome

disorder

SNOMED 716245003CUI C1852278

Overview

Deafness craniofacial 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.

Abnormal palate morphology

Very frequent (80-99%)HP:0000174

Bilobed tongue

Very frequent (80-99%)HP:0010297

Frontal protuberance

Very frequent (80-99%)HP:0002007

Hypoplasia of tongue frenum

Very frequent (80-99%)HP:0000200

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Small nasal alae

Very frequent (80-99%)HP:0000430

Temporal hypotrichosis

Very frequent (80-99%)HP:0004524

Unbalanced face

Very frequent (80-99%)HP:0000324

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Enophthalmos

Frequent (30-79%)HP:0000490

Mongoloid slant

Frequent (30-79%)HP:0000582

PDA

Frequent (30-79%)HP:0001643

Tooth abnormalities

Frequent (30-79%)HP:0000164

Related Conditions

Autosomal dominant hereditary disorder(parent)

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

Congenital hearing disorder(parent)

Developmental hereditary disorder(parent)

Hearing loss associated with syndrome(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 716245003
UMLS CUI: C1852278
Fully Specified Name: Deafness craniofacial 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.