Deafness with malformation of ear and facial palsy syndrome

disorder

SNOMED 716243005CUI C4274753

Overview

Deafness with malformation of ear and facial palsy 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 antihelix morphology

Very frequent (80-99%)HP:0009738

Abnormal stapes morphology

Very frequent (80-99%)HP:0008628

Absent/underdeveloped ear lobes

Very frequent (80-99%)HP:0009906

Dysplastic ears

Very frequent (80-99%)HP:0000377

Facial muscle weakness of muscles innervated by CN VII

Very frequent (80-99%)HP:0010628

Hearing loss, conductive

Very frequent (80-99%)HP:0000405

Hypoplasia of the antihelix

Very frequent (80-99%)HP:0009739

Deformity of the periauricular region

Frequent (30-79%)HP:0000383

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital anomaly of ear with impairment of hearing(parent)

Facial palsy(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 716243005
UMLS CUI: C4274753
Fully Specified Name: Deafness with malformation of ear and facial palsy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.