Wolf Hirschhorn syndrome

disorder

SNOMED 718226002CUI C1956097

Overview

Wolf Hirschhorn 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 mouth

Very frequent (80-99%)HP:0000153

Abnormality of the philtrum

Very frequent (80-99%)HP:0000288

Ataxia

Very frequent (80-99%)HP:0001251

Central hypotonia

Very frequent (80-99%)HP:0001252

Decreased fetal movement

Very frequent (80-99%)HP:0001558

Decreased muscle mass

Very frequent (80-99%)HP:0003199

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Epilepsy

Very frequent (80-99%)HP:0001250

Frontal protuberance

Very frequent (80-99%)HP:0002007

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

High frontal hairline

Very frequent (80-99%)HP:0009890

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Low birth weight

Very frequent (80-99%)HP:0001518

Low posterior hair line

Very frequent (80-99%)HP:0002162

Malformation of lip

Very frequent (80-99%)HP:0000159

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Microtia

Very frequent (80-99%)HP:0008551

Missing between one and six teeth

Very frequent (80-99%)HP:0000668

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Poor growth

Very frequent (80-99%)HP:0001510

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Turridolichocephaly

Very frequent (80-99%)HP:0000268

Abnormal vertebral bodies

Frequent (30-79%)HP:0003312

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Abnormality of the chest

Frequent (30-79%)HP:0000765

Abnormality of the feet

Frequent (30-79%)HP:0001760

Related Conditions

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

Anomaly of chromosome pair 4(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 718226002
UMLS CUI: C1956097
Fully Specified Name: Wolf Hirschhorn 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.