Hemifacial microsomia with radial defect syndrome

disorder

SNOMED 726722009CUI C0220681

Overview

Hemifacial microsomia with radial defect 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.

Abnormality of cardiovascular system morphology

Very frequent (80-99%)HP:0030680

Aplastic/hypoplastic thumbs

Very frequent (80-99%)HP:0009601

Decreased size of mandibular ramus

Very frequent (80-99%)HP:0003778

Inner ear abnormality

Very frequent (80-99%)HP:0000359

Laryngeal stridor

Very frequent (80-99%)HP:0006511

Microtia

Very frequent (80-99%)HP:0008551

Unbalanced face

Very frequent (80-99%)HP:0000324

Atretic auditory canal

Frequent (30-79%)HP:0000413

Cognitive deficits

Frequent (30-79%)HP:0100543

Decreased body height

Frequent (30-79%)HP:0004322

Distal urethral duplication

Frequent (30-79%)HP:0008706

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Hole in center of heart

Frequent (30-79%)HP:0006695

Ossicular malformation

Frequent (30-79%)HP:0004452

Preauricular fistulas

Frequent (30-79%)HP:0004467

Renal hypoplasia/aplasia

Frequent (30-79%)HP:0008678

Sensorineural deafness

Frequent (30-79%)HP:0000407

Skin tag on the posterior cheek

Frequent (30-79%)HP:0000384

VUR

Frequent (30-79%)HP:0000076

Absent/small lungs

Occasional (5-29%)HP:0006703

Aplasia/Hypoplasia affecting the eye

Occasional (5-29%)HP:0008056

Cleft of palate

Occasional (5-29%)HP:0000175

Ectopic anus

Occasional (5-29%)HP:0004397

Genital abnormalities

Occasional (5-29%)HP:0000078

Large mouth

Occasional (5-29%)HP:0000154

Non-midline cleft of the upper lip

Occasional (5-29%)HP:0100335

Preaxial hand polydactyly

Occasional (5-29%)HP:0001177

Triphalangy of thumb

Occasional (5-29%)HP:0001199

Complete duplication of thumb bones

HP:0009943

Hearing loss, conductive

HP:0000405

Related Conditions

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

Congenital anomaly of radius(parent)

Hemifacial microsomia(parent)

Quick Facts

SNOMED CT: 726722009
UMLS CUI: C0220681
Fully Specified Name: Hemifacial microsomia with radial defect 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.