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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
Birth weight less than 10th percentile
Very frequent (80-99%)HP:0001518
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased fetal movement
Very frequent (80-99%)HP:0001558
Decreased muscle mass
Very frequent (80-99%)HP:0003199
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Frontal protuberance
Very frequent (80-99%)HP:0002007
Generalised decreased muscle tone
Very frequent (80-99%)HP:0001290
Growth deficiency
Very frequent (80-99%)HP:0001510
High frontal hairline
Very frequent (80-99%)HP:0009890
Hypospadias
Very frequent (80-99%)HP:0000047
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Low posterior hair line
Very frequent (80-99%)HP:0002162
Malformation of lip
Very frequent (80-99%)HP:0000159
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
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Narrow head shape
Very frequent (80-99%)HP:0000268
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Seizures
Very frequent (80-99%)HP:0001250
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

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.