Diseases

Pallister-Hall Syndrome

A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.

MeSH Record

Classification

Broader headings

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MeSH Record

Synonyms

17 entry terms
  • CAVE Complex
  • Cerebroacrovisceral Early Lethality Complex
  • Hall-Pallister Syndrome
  • Hypothalamic Hamartoblastoma Syndrome
  • Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly
  • CAVE Complices
  • Complex, CAVE
  • Complices, CAVE
  • Hall Pallister Syndrome
  • Hamartoblastoma Syndrome, Hypothalamic
  • Hamartoblastoma Syndromes, Hypothalamic
  • Hypothalamic Hamartoblastoma Syndromes
  • Pallister Hall Syndrome
  • Syndrome, Hall-Pallister
  • Syndrome, Hypothalamic Hamartoblastoma
  • Syndrome, Pallister-Hall
  • Syndromes, Hypothalamic Hamartoblastoma

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

2009

MeSH Hierarchy

Tree Numbers

  1. C04w.445w.622w
  2. C04w.588.614w.250w.195w.885.500.299w
  3. C05w.660w.585w.600w.374w
  4. C10w.228w.140w.211w.885.500.299w
  5. C10w.228w.140w.617w.477.299w
  6. C10w.551w.240w.250w.700.500.249w
  7. C16w.131w.077w.690w
  8. C16w.131w.621w.585w.600w.374w

AMA Style

References

  1. National Library of Medicine. Pallister-Hall Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D054975. http://id.nlm.nih.gov/mesh/2026/D054975
  2. Pallister-Hall Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Pallister%E2%80%93Hall_syndrome
  3. Pallister-Hall Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q3085434