Diseases

Wolf-Hirschhorn Syndrome

A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as Greek helmet face - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as Greek helmet face - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

27 entry terms
  • 4p Deletion Syndrome
  • 4p- Syndrome
  • Chromosome 4p Deletion Syndrome
  • Chromosome 4p Monosomy
  • Chromosome 4p Syndrome
  • Del(4p) Syndrome
  • Partial Monosomy 4p
  • Wolf Syndrome
  • Wolf-Hirchhorn Syndrome
  • 4p Syndrome, Chromosome
  • 4p Syndromes, Chromosome
  • Chromosome 4p Syndromes
  • Syndrome, Chromosome 4p
  • Syndrome, Wolf
  • Syndrome, Wolf-Hirchhorn
  • Syndrome, Wolf-Hirschhorn
  • Syndromes, Chromosome 4p
  • Wolf Hirchhorn Syndrome
  • Wolf Hirschhorn Syndrome
  • Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation
  • Pitt Syndrome
  • Pitt-Rogers-Danks Syndrome
  • Pitt Rogers Danks Syndrome
  • Pitt Syndromes
  • Syndrome, Pitt
  • Syndrome, Pitt-Rogers-Danks
  • Syndromes, Pitt

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2008

MeSH Record

Previous Indexing

  • Abnormalities, Multiple (1970-2007)
  • Chromosome Deletion (1978-2007)

MeSH Hierarchy

Tree Numbers

  1. C16w.131w.077w.944w
  2. C16w.131w.260w.985w
  3. C16w.320w.180w.985w

AMA Style

References

  1. National Library of Medicine. Wolf-Hirschhorn Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D054877. http://id.nlm.nih.gov/mesh/2026/D054877
  2. Wolf-Hirschhorn Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Wolf%E2%80%93Hirschhorn_syndrome
  3. Wolf-Hirschhorn Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q610075