Pallister Hall Syndrome
It is possible that the main title of the report Pallister Hall Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Hall-Pallister Syndrome
- Congenital hypothalamic hamartoblastoma syndrome
- CAVE (cerebro-acro-visceral early lethality) complex
Pallister-Hall syndrome (PHS) is an extremely rare genetic disorder that may be apparent at birth (congenital). The symptoms and findings associated with the disorder may vary greatly in range and severity from case to case. However, in many individuals with Pallister-Hall syndrome, associated abnormalities may include a malformation of the hypothalamus (hypothalamic hamartomablastoma), a portion of the brain that coordinates the function of the pituitary gland and has several other functions; decreased pituitary function (hypopituitarism); the presence of extra (supernumerary) fingers and/or toes (central or postaxial polydactyly); an abnormal division of the epiglottis (bifid epiglottis); and/or a condition in which a thin covering blocks the anal opening or the passage that normally connects the anus and the lowest part of the large intestine (rectum) fails to develop (imperforate anus). Additional symptoms and findings may include characteristic malformations of the head and facial (craniofacial) area and/or other abnormalities. Pallister-Hall syndrome has autosomal dominant inheritance. Cases in which a positive family history has not been found are thought to represent new genetic changes (mutations) that occur randomly, with no apparent cause (sporadic).
American Brain Tumor Association
8550 W. Bryn Mawr Avenue, Suite 550
Chicago, IL 60631
4340 East West Highway Ste 950
Bethesda, MD 20814
Hydrocephalus Support Group, Inc.
1933 Mistflower Glen Ct.
Chesterfield, MO 63005-4236
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Cleft Lip and Palate Foundation of Smiles
2044 Michael Ave SW
Wyoming, MI 49509
Hope for Hypothalamic Hamartoma
P. O. Box 721
Waddell, AZ 85355