Infantile spasms, broad thumbs syndrome

disorder

SNOMED 770438007CUI C4749287

Overview

Infantile spasms, broad thumbs 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 cranial suture/fontanelle morphology

Very frequent (80-99%)HP:0000235

Broad thumbs

Very frequent (80-99%)HP:0011304

Cardiomyopathy, hypertrophic

Very frequent (80-99%)HP:0001639

Cataract

Very frequent (80-99%)HP:0000518

Cerebral cortex atrophy

Very frequent (80-99%)HP:0002120

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Hooked nose

Very frequent (80-99%)HP:0000444

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Hypoplastic or absent corpus callosum

Very frequent (80-99%)HP:0007370

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Optic disc pallor

Very frequent (80-99%)HP:0000543

Seizures

Very frequent (80-99%)HP:0001250

Vaginal hernia

Very frequent (80-99%)HP:0100672

Related Conditions

Congenital malformation of thumb(parent)

Epilepsy(parent)

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

Disorder of muscle(parent)

Quick Facts

SNOMED CT: 770438007
UMLS CUI: C4749287
Fully Specified Name: Infantile spasm and broad thumb syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.