Disease Information for Pallister Hall Syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Progressive enlargement of Skull/infant
Dysmorphic appearance/face
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Associated Diseases & Rule outs
Associated Disease & Complications
Anal Atresia
Craniosynostosis
Hydrocephalus
Hypothalamic lesion
Imperforate anus
Limb deformities/anomalies
Pallister Hall Syndrome
Panhypopituitarism
Polydactyly/Supernumery digits
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Endocrine gland (category)
Pathophysiology
Pathophysiology/Gene locus 7p13
Pathophysiology/Gene locus Chromosome 7
Pathophysiology/Gene locus Chromosome 7p
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/CSF flow defect
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Genetic expressivity variable (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Phakomatosis/congenital (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Pallister Hall Syndrome, Synonym/Hall-Pallister Syndrome, Synonym/Hypothalamic hamartoblastoma,hypopit,imp anus,polydactyly, Synonym/PHS
Definition

Pallister Hall Syndrome; CAVE (cerebro-acro-visceral early lethality) complex; Congenital hypothalamic hamartoblastoma syndrome; Hall-Pallister Syndrome; PHS; 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)--------------[NORD 2005]-----------------------------PALLISTER-HALL SYNDROME; PHS Autosomal dominant; Intrauterine growth retardation; Simple auricles; Absent external auditory canals; Microtia; Posteriorly rotated ears; Microphthalmia; Short nose; Flat nasal bridge; Anteverted nares; Multiple buccal frenula; Microglossia; Cleft lip and palate; Natal teeth; Ventricular septal defect; Patent ductus arteriosus; Proximal aortic coarctation; Laryngeal cleft; Bifid or hypoplastic epiglottis; Abnormal lung lobation; Fused ribs; Imperforate anus; Micropenis; Testicular hypoplasia; Renal dysplasia; Renal ectopia; Hemivertebrae; Dislocated hips ;Distal shortening of limbs; Radial subluxation; Postaxial polydactyly; Oligodactyly; Short 4th metacarpals

Syndactyly; Feet Syndactyly ; Postaxial polydactyly

Midline facial capillary hemangioma; Nail dysplasia; Holoprosencephaly; Hypothalamic hamartoblastoma; Pituitary aplasia or dysplasia; Panhypopituitarism; Adrenal gland hypoplasia; Thyroid dysplasia/aplasia; Neonatal lethal; Most cases sporadic; Long-term survivors require hormone replacement; Caused by mutations in the GLI-Kruppel family member 3 gene (GLI3); gene locus 7p13 --------------------[OMIM 2005]---------An international workshop on Pallister-Hall syndrome has now developed minimal diagnostic criteria for this entity; The index case in a family must have both hypothalamic hamartoma and central polydactyly to meet the diagnostic criteria; First degree relatives of the index case must have either hypothalamic hamartoma or polydactyly (central or postaxial) and show inheritance in an autosomal dominant pattern or in a manner consistent with gonadal mosaicism; [OMIM]

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External Links Related to Pallister Hall Syndrome
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Wikipedia
Merck
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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