Disease Information for Pallister Hall Syndrome

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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