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Wolf-Hirschhorn syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Features include very common findings: Decreased muscle mass, Generalized hypotonia, EEG abnormality, and Global developmental delay and others; and common findings: Epicanthus, Abnormal form of the vertebral bodies, Strabismus, and Short stature and others. 100 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	6	Abnormal form of the vertebral bodies, Delayed skeletal maturation, Vertebral fusion
Head and neck	6	Craniofacial asymmetry, Microcephaly, Cleft palate
Arms and legs	5	Preaxial hand polydactyly, Split hand, Preaxial foot polydactyly
Growth and development	5	Short stature, Severe postnatal growth retardation, Failure to thrive
Brain and nerves	5	Seizure, Hydrocephalus, Global developmental delay
Digestive system	4	Gastroesophageal reflux, Accessory spleen, Biliary tract abnormality
Heart and blood vessels	4	Ventricular septal defect, Atrial septal defect, Abnormal heart valve (abnormal heart valve morphology)
Eyes	3	Strabismus, Nystagmus, Ptosis
Muscles	2	Decreased muscle mass, Generalized hypotonia
Ears	2	Inner ear hearing loss (sensorineural hearing impairment), Conductive hearing impairment
Kidneys and urinary system	1	Abnormality of the genitourinary system
Skin	1	Preauricular skin tag
Nervous system (morphological)	1	Morphological central nervous system abnormality
Hormones	1	Precocious puberty
Pregnancy and birth	1	Decreased fetal movement
Blood and immune system	1	Immunodeficiency
Lungs and breathing	1	Aplasia/Hypoplasia of the lungs

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

115 publications have been identified in PubMed for Wolf-Hirschhorn syndrome. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (19%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Laboratory research	38	33%
Patient case studies	22	19%
Disease patterns and progression	20	17%
Research summaries	17	15%
Clinical study results	9	8%
Testing and diagnosis research	6	5%
New treatment approaches	3	3%

Recent Publications

Li C (2026). [PMID: 42221011](https://pubmed.ncbi.nlm.nih.gov/42221011/). *Front Pediatr*. [Case Report / Case Series]
Kannan J (2026). [PMID: 41932714](https://pubmed.ncbi.nlm.nih.gov/41932714/). *BMJ Case Rep*. [Case Report / Case Series]
Salimbene L (2026). [PMID: 41757388](https://pubmed.ncbi.nlm.nih.gov/41757388/). *Epilepsia*. [Epidemiology / Natural History]
Griffiths JA (2026). [PMID: 41238755](https://pubmed.ncbi.nlm.nih.gov/41238755/). *Nat Rev Microbiol*. [Review / Meta-Analysis]
Wang Y (2026). [PMID: 41758961](https://pubmed.ncbi.nlm.nih.gov/41758961/). *Blood*. [Basic Science / Preclinical]
Lo KB (2026). [PMID: 42234437](https://pubmed.ncbi.nlm.nih.gov/42234437/). *JAMA Cardiol*. [Clinical Trial Publication]
Tavassoli T (2026). [PMID: 42262640](https://pubmed.ncbi.nlm.nih.gov/42262640/). *Curr Psychiatry Rep*. [Review / Meta-Analysis]
Adamczyk M (2026). [PMID: 42261721](https://pubmed.ncbi.nlm.nih.gov/42261721/). *Ginekol Pol*. [Case Report / Case Series]
Shen W (2026). [PMID: 42210665](https://pubmed.ncbi.nlm.nih.gov/42210665/). *Mol Genet Genomic Med*. [Gene Therapy / Novel Therapeutics]
Sozańska N (2026). [PMID: 42106138](https://pubmed.ncbi.nlm.nih.gov/42106138/). *Arch Biochem Biophys*. [Basic Science / Preclinical]

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Wolf-Hirschhorn syndrome

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Recent Publications

Wolf-Hirschhorn syndrome

Overview

Clinical Presentation

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Recent Publications