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.

Also Known As:

Networked: 44 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Waardenburg's Syndrome (Waardenburg Syndrome)
2.	Medulloblastoma
3.	Hearing Disorders (Hearing Disorder)
4.	Polydactyly (Polydactylism)
5.	Hamartoma

Experts

1.	Biesecker, Leslie G: 5 articles (06/2013 - 01/2005)
2.	Biesecker, L G: 3 articles (03/2001 - 07/2000)
3.	Hill, Patrick: 2 articles (07/2008 - 09/2007)
4.	Rüther, Ulrich: 2 articles (07/2008 - 09/2007)
5.	McCann, Emma: 2 articles (04/2006 - 04/2005)
6.	Turner, Joyce T: 2 articles (04/2005 - 01/2005)
7.	Killoran, C E: 2 articles (03/2001 - 07/2000)
8.	Nampoothiri, Sheela: 1 article (01/2015)
9.	Roume, Joëlle: 1 article (01/2015)
10.	Baumann, Clarisse: 1 article (01/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pallister-Hall Syndrome:

1.	Greig cephalopolysyndactyly syndromeIBA 01/01/2015 - "The phenotypic spectrum of GLI3 mutations includes autosomal dominant Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). " 09/01/2007 - "Mutations in GLI3 manifest in several distinct clinical phenotypes including Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome (PHS). " 12/01/1997 - "Haploinsufficiency of this gene has been associated with the Greig cephalopolysyndactyly syndrome and truncation mutations cause Pallister-Hall syndrome. " 06/01/1997 - "Although Greig cephalopolysyndactyly syndrome has some phenotypic overlap with Pallister-Hall syndrome, these two disorders are clinically distinct. " 06/10/2014 - "GLI3 plays a predominant role in the pathogenesis of syndromic polydactyly: mutations have been identified in 68% of patients with Greig cephalopolysyndactyly syndrome and 91% of patients with Pallister-Hall syndrome. "
2.	Transcription Factors (Transcription Factor)IBA 07/16/2008 - "Truncating mutations in the transcription factor GLI3, a downstream effector of the Hedgehog (HH) pathway, lead to a partial loss of HH signaling and cause Pallister-Hall syndrome (PHS). " 01/01/2005 - "GLI3 is a transcription factor from the GLI-Kruppel gene family that has been implicated in three distinct entities: GCPS, Pallister-Hall syndrome, and postaxial polydactyly type A. " 01/01/2009 - "Mutations in the transcription factor GLI3, a downstream target of Sonic Hedgehog (SHH) signaling, are responsible for the development of malformation syndromes such as Greig-cephalopolysyndactyly-syndrome (GCPS), or Pallister-Hall-syndrome (PHS). " 04/01/2005 - "Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. " 03/16/1999 - "Truncation mutations of the GLI3 zinc finger transcription factor can cause Greig cephalopolysyndactyly syndrome (GCPS), Pallister-Hall syndrome (PHS), and postaxial polydactyly type A (PAP-A). "
3.	Growth Hormone (Somatotropin)IBA 03/01/2001 - "We conclude that children with Pallister-Hall syndrome and short stature be evaluated carefully for spontaneous somatotropic function and, if necessary, treated with growth hormone." 03/01/2001 - "We describe a case of Pallister-Hall syndrome with growth hormone neurosecretory dysfunction, successfully treated with growth hormone until attainment of final height. " 03/01/2001 - "Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome." 01/01/2001 - "We report a case of Pallister-Hall syndrome with microphallus and without growth hormone deficiency that has been followed successfully for two years. " 02/01/2001 - "Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome."
4.	Hydrolethalus syndromeIBA 12/15/1991 - "The three midline malformation complexes, the oral-facial-digital syndrome type VI (OFDS VI) or Váradi syndrome, the hydrolethalus syndrome (HS), and the Pallister-Hall syndrome (PHS) have been described as distinct genetic entities. " 12/15/1991 - "On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome." 11/01/1991 - "The combination of malformations observed overlaps with that of the oral-facial-digital syndrome, hydrolethalus syndrome, and Pallister-Hall syndrome. " 11/01/2005 - "Clinical overlap with hydrolethalus syndrome, Smith-Lemli-Opitz syndrome, Meckel syndrome, and Pallister-Hall syndrome is discussed." 09/01/2008 - "This article provides a comprehensive review of the syndromes and disorders associated with NTDs, including Pallister-Hall syndrome, Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy, MURCS association, Roberts syndrome, cerebro-costo-mandibular syndrome, laterality sequences, hydrolethalus syndrome, Knobloch syndrome, oculoauriculovertebral spectrum (hemifacial microsomia), cervico-oculo-acoustic syndrome, Fanconi anemia, Miller-Dieker lissencephaly syndrome, Fraser syndrome, frontonasal dysplasia, Adams-Oliver syndrome, CHILD syndrome, dyssegmental dysplasia, and monozygotic twinning. "
5.	Hypothalamic hamartomasIBA 01/01/1997 - "[The Pallister-Hall syndrome--a rare case and an example of the differentiated approach to the treatment of hormonally inactive hypothalamic hamartomas]." 01/01/2005 - "Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases." 10/01/2013 - "Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies."
6.	CholesterolIBA 11/01/1996 - "Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome." 08/01/1995 - "Together with the absence of anomalies of cholesterol metabolism, a combination of oral frenula, laryngeal malformations, digestive abnormalities, intercalary polysyndactyly, generalised brachytelephalangism, and nail hypoplasia should allow the delineation of Pallister-Hall syndrome, even when a CNS tumour is absent. "
7.	McKusick Kaufman syndromeIBA 04/01/2006 - "Conversely, all girls with features suggestive of McKusick-Kaufman syndrome require neuroimaging to look for features of the Pallister-Hall syndrome. " 08/01/2008 - "Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome."
8.	MURCS associationIBA 01/01/2011 - "This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral syndrome, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus. " 09/01/2008 - "This article provides a comprehensive review of the syndromes and disorders associated with NTDs, including Pallister-Hall syndrome, Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy, MURCS association, Roberts syndrome, cerebro-costo-mandibular syndrome, laterality sequences, hydrolethalus syndrome, Knobloch syndrome, oculoauriculovertebral spectrum (hemifacial microsomia), cervico-oculo-acoustic syndrome, Fanconi anemia, Miller-Dieker lissencephaly syndrome, Fraser syndrome, frontonasal dysplasia, Adams-Oliver syndrome, CHILD syndrome, dyssegmental dysplasia, and monozygotic twinning. "
9.	Penis agenesisIBA 12/01/2010 - "We describe two patients with Pallister-Hall syndrome (PHS) with genital abnormalities: a female with hydrometrocolpos secondary to vaginal atresia and a male with micropenis, hypoplastic scrotum, and bilateral cryptorchidism. " 08/01/1989 - "Clinical manifestations in infants with Pallister-Hall syndrome included postaxial polydactyly with nail dysplasia, short nose with flat nasal bridge, apparently low-set, posteriorly angulated ears, kidney and lung anomalies, congenital heart defects, imperforate anus, and micropenis with undescended or hypoplastic testes in males. "
10.	VATER associationIBA 01/01/2011 - "The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. " 07/01/2000 - "We noted that the features of PIV overlap with the VATER association and Pallister-Hall syndrome (PHS, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, hypoplastic nails, renal anomalies, imperforate anus, and hypothalamic hamartoma. "

Therapies and Procedures

1.	Ventriculoperitoneal Shunt 12/01/1999 - "One of the born children had Pallister-Hall syndrome and died on day 19, and another had Aicardi's syndrome, is retarded and has fits, 1 with a posterior fossa cyst developed hydrocephalus in utero and was delivered early for the insertion of a ventriculoperitoneal shunt, he is moderately mentally delayed. "