Wolf-Hirschhorn syndrome
Findings
No curated finding names Wolf-Hirschhorn syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.
Definition from the Mondo Disease Ontology (MONDO:0008684), read 2026-09-29. CC BY 4.0.
Features
116 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EEG abnormalityHPOHP:0002353
- 90% of reported patients
- Abnormal lip morphologyHPOHP:0000159
- Very frequent (80% to 99% of cases)
- Abnormality of the mouthHPOHP:0000153
- Very frequent (80% to 99% of cases)
- Abnormality of the philtrumHPOHP:0000288
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Decreased fetal movementHPOHP:0001558
- Very frequent (80% to 99% of cases)
- Decreased muscle massHPOHP:0003199
- Very frequent (80% to 99% of cases)
- DolichocephalyHPOHP:0000268
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- Downturned corners of mouthHPOHP:0002714
- Frequent (30% to 79% of cases)
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Very frequent (80% to 99% of cases)
Show the remaining 104
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Generalized hypotoniaHPOHP:0001290
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- High anterior hairlineHPOHP:0009890
- Very frequent (80% to 99% of cases)
- High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NSD2HGNC:12766
- Definitive · Illumina · Autosomal dominant · 2020
Where it sits
Other names
10 names
Resolves to: Wolf-Hirschhorn syndrome
- Also called
- 4p deletion syndrome4p- syndromechromosome 4p16.3 deletion syndromedistal deletion 4pdistal monosomy 4pPitt syndromePitt-Rogers-Danks syndrometelomeric deletion 4pWittwer syndromeWolf-Hirschhorn syndrome, Isolated cases