{"orpha":2988,"name":"Pterygium colli-intellectual disability-digital anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Khalifa-Graham syndrome"],"definition":"A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2988/","orphanet_url":"https://www.orpha.net/en/disease/detail/2988","names":{"fr":{"name":"Syndrome de pterygium colli-déficience intellectuelle-anomalies des doigts","synonyms":["Syndrome de Khalifa-Graham"],"definition":"Syndrome de pterygium colli-déficience intellectuelle-anomalies des doigts est caractérisé par un ptérygium colli, des anomalies digitales (petits pouces anormaux, articulations interphalangiennes élargies, et phalanges terminales larges), et des anomalies crâniofaciales (brachycéphalie, épicanthus, sourcils anguleux, fentes palpébrales mongoloïdes, ptosis, hypertélorisme, oreilles bas implantées, proéminentes et en rotation postérieure). Il a été décrit chez une femme et son fils, mais les manifestations étaient nettement moins sévères chez la mère. Le fils avait également un déficit intellectuel. Le mode de transmission est soit dominant lié à l'X, soit autosomique dominant."},"de":{"name":"Pterygium colli-Intelligenzminderung-Fingeranomalien-Syndrom","synonyms":["Khalifa-Graham-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch Pterygium colli, Fingeranomalien (abnorm kleine Daumen, verbreiterte Interphalangealgelenke, breite Endphalangen) und kraniofaziale Anomalien (Brachyzephalie, Epikanthus, gewinkelte Augenbrauen, anti-mongoloide Lidachsen, Ptose, Hypertelorismus und prominente, tiefsitzende und nach hinten rotierte Ohren)."},"es":{"name":"Síndrome de pterygium colli-discapacidad intelectual-anomalías digitales","synonyms":["Síndrome de Khalifa-Graham"],"definition":"Es un síndrome poco frecuente caracterizado por \"pterigium colli\", anomalías digitales (pulgares pequeños, articulaciones interfalángicas amplias y falanges terminales anchas), y anomalías craneofaciales (braquicefalia, pliegues epicánticos, cejas anguladas, fisuras palpebrales inclinadas hacia arriba, ptosis, hipertelorismo y orejas prominentes de implantación baja, rotadas posteriormente). Se ha descrito en una mujer y su hijo, pero las manifestaciones fueron mucho menos graves en la madre. El hijo presentaba también déficit intelectual. La herencia es dominante ligada al cromosoma X dominante o autosómica dominante."},"it":{"name":"Sindrome pterigio del collo-disabilità intellettiva-anomalie delle dita","synonyms":["Sindrome di Khalifa-Graham"]},"nl":{"name":"Pterygium colli - intellectuele achterstand - digitale anomalieën-syndroom","synonyms":["Syndroom van Khalifa-Graham"],"definition":"Een zeldzame aandoening gekarakteriseerd door pterygium colli, anomalieën van vingers/tenen (abnormaal kleine duimen, brede interfalangeale gewrichten, en brede terminale falangen), en craniofaciale afwijkingen (brachycefalie, epicanthusplooien, hoekige wenkbrauwen, schuin naar boven hellende ooglidspleten, ptose, hypertelorisme, en prominente, laagstaande, naar achteren gedraaide oren). Het werd beschreven bij een vrouw en haar zoon, maar de manifestaties waren minder ernstig bij de moeder. De zoon had ook een intellectuele beperking. Overerving gebeurt ofwel X-gebonden dominant ofwel autosomaal dominant."},"pt":{"name":"Síndrome de pterígio do pescoço-perturbação do desenvolvimento intelectual-anomalias digitais","synonyms":["Síndrome Khalifa-Graham"]},"pl":{"name":"Płetwistość szyi -niepełnosprawność intelektualna - anomalie palców","synonyms":["Zespół Khalifa i Grahama"]},"cs":{"name":"Syndrom zahrnující pterygium colli, mentální retardaci a anomálie prstů ruky","synonyms":["Khalifův-Grahamové syndrom","Khalifa-Grahamové syndrom"]},"uk":{"name":"Синдром птерігіум інтелектуальної недостатності-аномалій пальців","synonyms":["Синдром Халіфа-Грема"],"definition":"A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant."},"zh":{"name":"翼状颈-智力障碍-指异常综合征","synonyms":["Khalifa-Graham综合征"]},"tr":{"name":"Piterjiyum colli-zihinsel yetersizlik-dijital anomaliler sendromu","synonyms":["Khalifa-Graham sendromu"]}},"xrefs":[{"source":"OMIM","code":"600159","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010835","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535831","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838562","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7977463[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7977463[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-06","source":"7977463[PMID]_4075567[PMID]_7205502[PMID]","terms":[{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0009662","label":"Abnormality of the epiphysis of the distal phalanx of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009836","label":"Broad distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006247","label":"Enlarged interphalangeal joints","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000537","label":"Epicanthus inversus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025538","label":"Palmar edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025537","label":"Plantar edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null}]}}