{"orpha":672,"name":"Pallister-Hall syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hypothalamic hamartoblastoma syndrome"],"definition":"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-672/","orphanet_url":"https://www.orpha.net/en/disease/detail/672","names":{"fr":{"name":"Syndrome de Pallister-Hall","synonyms":["Syndrome d'hamartoblastome hypothalamique-polydactylie"],"definition":"Le syndrome de Pallister-Hall (SPH) est un syndrome malformatif pléiotrope, autosomique dominant, caractérisé par un hamartome hypothalamique, un dysfonctionnement hypophysaire, une épiglotte bifide, une polydactylie, et plus rarement, des anomalies rénales et des malformations génito-urinaires."},"de":{"name":"Pallister-Hall-Syndrom","synonyms":["Hamartom im Hypothalamusbereich - Polydaktylie"],"definition":"Das Pallister-Hall-Syndrom (PHS), eine pleiotrope, autosomal-dominant vererbte Fehlbildungsstörung. Charakteristische Symptome sind: Hypothalamus-Hamartome, Hypophysen-Dysfunktion, Epiglottis-Spalte, Polydaktylie und, seltener, Nierenanomalien und urogenitale Fehlbildungen."},"es":{"name":"Síndrome de Pallister-Hall","definition":"El síndrome de Pallister-Hall (PHS), es un trastorno malformativo pleiotrópico y con un patrón de transmisión autosómico dominante, caracterizado por hamartoma hipotalámico, disfunción hipofisaria, epiglotis bífida, polidactilia y, con menos frecuencia, anomalías renales y malformaciones genitourinarias."},"it":{"name":"Sindrome di Pallister-Hall","synonyms":["Amartoblastoma ipotalamico - polidattilia"],"definition":"La sindrome di Pallister-Hall (PHS) è una malattia malformativa pleiotropica autosomica dominante, con amartoma ipotalamico, disfunzione ipofisaria, epiglottide bifida, polidattilia e, di rado, anomalie renali e malformazioni urogenitali."},"nl":{"name":"Syndroom van Pallister-Hall","synonyms":["Hypothalamisch hamartoblastoom-syndroom"],"definition":"Pallister-Hallsyndroom (PHS) is een pleiotrope autosomaal dominante misvormende aandoening en wordt gekenmerkt door hypothalamushamartomen, disfunctie van de hypofyse, gespleten epiglottis, polydactylie en, meer zelden, nierafwijkingen en urogenitale misvormingen."},"pt":{"name":"Pallister-Hall syndrome","synonyms":["Síndrome de hamartoblastoma hipotalâmico"]},"pl":{"name":"Zespół Pallistera i Hall","synonyms":["Zespół hamartoblastoma podwzgórza"]},"cs":{"name":"Pallisterův-Hallův syndrom","synonyms":["Syndrom hamartoblastomu hypotalamu","Pallister-Hallův syndrom"]},"uk":{"name":"Синдром Паллістера-Холла","synonyms":["Синдром гіпоталамічної гамартобластоми"],"definition":"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations."},"zh":{"name":"Pallister-Hall综合征","synonyms":["下丘脑错构母细胞瘤综合征"]},"tr":{"name":"Pallister-Hall sendromu","synonyms":["Hipotalamik hamartoblastom sendromu"]}},"xrefs":[{"source":"OMIM","code":"146510","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D33.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1845613381"},{"source":"MONDO","code":"0007804","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054975","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265220","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7305","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089178","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2113,"name":"Congenital hypothalamic hamartoma syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":95495,"name":"Disease associated with non-acquired combined pituitary hormone deficiency","classifications":[156,193]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"GLI3","name":"GLI family zinc finger 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301638[PMID]","hgnc":"4319","ensembl":"ENSG00000106571","omim":"165240","loci":["7p14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"20301638[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301638[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-04","source":"24736735[PMID]_18057317[PMID]_26604140[PMID]_14708104[PMID]_21108399[PMID]_11241471[PMID]_9192261[PMID]_8591673[PMID]_8182722[PMID]_2596511[PMID]_7211952[PMID]_8914745[PMID]","terms":[{"hpo":"HP:0002444","label":"Hypothalamic hamartoma","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011939","label":"3-4 finger cutaneous syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040086","label":"Abnormal prolactin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000191","label":"Accessory oral frenulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011748","label":"Adrenocorticotropic hormone deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006136","label":"Bilateral postaxial polydactyly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011734","label":"Central adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008213","label":"Gonadotropin deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008751","label":"Laryngeal cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100260","label":"Mesoaxial polydactyly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009958","label":"Polydactyly affecting the 3rd finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009971","label":"Polydactyly affecting the 4th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002986","label":"Radial bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003048","label":"Radial head subluxation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200117","label":"Recurrent upper and lower respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000902","label":"Rib fusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008240","label":"Secondary growth hormone deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005917","label":"Supernumerary metacarpal bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000835","label":"Adrenal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030021","label":"Auricular tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010564","label":"Bifid epiglottis","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001837","label":"Broad toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000273","label":"Facial grimacing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010821","label":"Focal emotional seizure with laughing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000171","label":"Microglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007601","label":"Midline facial capillary hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012165","label":"Oligodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000871","label":"Panhypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000749","label":"Paroxysmal bursts of laughter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005990","label":"Thyroid hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011026","label":"Aplasia/Hypoplasia of the vagina","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008684","label":"Aplasia/hypoplasia of the uterus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002139","label":"Arrhinencephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010958","label":"Bilateral renal agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005684","label":"Distal arthrogryposis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030010","label":"Hydrometrocolpos","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030431","label":"Osteochondroma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030799","label":"Scaphocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Very rare (<4-1%)","criteria":null}]}}