{"orpha":989,"name":"Hypoglossia-hypodactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Aglossia-adactylia syndrome","Hanhart syndrome","Jussieu syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by hypoglossia, micrognathia and variable limb abnormalities. Limb defects can involve any limb (usually all four) and the severity may vary from the absence of distal phalanges to total absence of digits or limbs. Synbrachydactyly may also be present. Patients have problems with speech, swallowing and mastication, and they have additional craniofacial anomalies (including telecanthus, lower eyelid defects, broad nose, microstomia, variable clefting or aberrant attachments of tongue, mandibular hypodontia, cleft palate, cranial nerve palsies, and facial asymmetry). Gingival abnormalities are frequently observed. Intelligence and stature are generally normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-989/","orphanet_url":"https://www.orpha.net/en/disease/detail/989","names":{"fr":{"name":"Syndrome d'hypoglossie-hypodactylie","synonyms":["Syndrome d'aglossie-adactylie","Syndrome de Hanhart","Syndrome de Jussieu"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une hypoglossie, une micrognathie et des malformations variables des membres. Pouvant toucher n'importe quel membre (généralement les quatre), la sévérité des malformations des membres peut aller d'une absence de phalanges distales à l'absence totale de doigts ou de membres. Une symbrachydactylie peut également être présente. Les patients présentent des troubles de l'élocution, de la déglutition et de la mastication, ainsi que d'autres anomalies craniofaciales (télécanthus, anomalies des paupières inférieures, nez large, microstomie, fente variable ou attache anormale de la langue, hypodontie mandibulaire, fente palatine, paralysies des nerfs crâniens et asymétrie faciale). Des anomalies de la gencive sont fréquemment observées. L'intelligence et la taille sont généralement normales."},"de":{"name":"Hypoglossie-Hypodaktylie-Syndrom","synonyms":["Aglossie-Adaktylie-Syndrom","Hanhart-Syndrom","Jussieu-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch Hypoglossie, Mikrognathie und variable Gliedmaßenanomalien gekennzeichnet ist. Die Gliedmaßendefekte können alle Gliedmaßen betreffen (in der Regel alle vier), und der Schweregrad kann vom Fehlen der distalen Phalangen bis zum völligen Fehlen von Gliedmaßen oder Extremitäten reichen. Es kann auch eine Synbrachydaktylie vorliegen. Die Patienten haben Probleme beim Sprechen, Schlucken und Kauen und weisen zusätzliche kraniofaziale Anomalien auf (u. a. Telekanthus, Defekte der unteren Augenlider, breite Nase, Mikrostomie, variable Zungenspalten oder abweichende Zungenansätze, Unterkieferhypodontie, Gaumenspalte, Hirnnervenlähmungen und Gesichtsasymmetrie). Häufig werden Anomalien des Zahnfleisches beobachtet. Intelligenz und Statur sind im Allgemeinen normal."},"es":{"name":"Síndrome de hipoglosia-hipodactilia","synonyms":["Síndrome de Hanhart","Síndrome de Jussieu","Síndrome de aglosia-adactilia"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas caracterizado por hipoglosia, micrognatia y afectación de las extremidades, que puede involucrar a cualquier extremidad (normalmente las cuatro) de forma variable, desde la ausencia de falanges distales hasta la ausencia total de dedos o extremidades, pudiendo asociar simbraquidactilia. Los pacientes presentan trastornos del habla, la deglución y la masticación, y tienen anomalías craneofaciales adicionales (incluyendo telecanto, defectos del párpado inferior, nariz ancha, microstomía, hendiduras variables o inserciones aberrantes de la lengua, hipodoncia mandibular, fisura palatina, parálisis de los nervios craneales y asimetría facial). Con frecuencia se observan anomalías gingivales. Por lo general, el desarrollo intelectual y la talla no se ven afectados."},"it":{"name":"Sindrome ipoglossia - ipodattilia","synonyms":["Sindrome aglossia-adattilia","Sindrome di Hanhart","Sindrome di Jussieu"]},"nl":{"name":"Hypoglossie - hypodactylie-syndroom","synonyms":["Aglossie - adactylie-syndroom","Syndroom van Hanhart","Syndroom van Jussieu"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door hypoglossie, micrognathie en variabele ledemaatanomalieën. Ledemaatdefecten kunnen aan eender welk ledemaat optreden (meestal alle vier) en de ernst ervan kan variëren van afwezigheid van distale falangen tot volledige afwezigheid van digiti of ledematen. Symbrachydactylie kan ook aanwezig zijn. Patiënten hebben problemen met spreken, slikken en kauwen, en ze vertonen bijkomende craniofaciale anomalieën (waaronder telecanthus, defecten van onderste oogleden, brede neus, microstomie, variabele schisis of aberrante aanhechtingen van de tong, mandibulaire hypodontie, gespleten gehemelte, hersenzenuwverlammingen, en asymmetrie van het aangezicht). Afwijkingen van gingiva worden vaak waargenomen. Intelligentie en gestalte zijn doorgaans normaal."},"pt":{"name":"Síndrome de hipoglossia-hipodactilia","synonyms":["Aplasia oromandibular e dos membros"],"definition":"Síndrome rara de anomalias congénitas múltiplas/dismórficas caracterizada por hipoglossia, micrognatia e anomalias variáveis &#8203;&#8203;nos membros. Defeitos nos membros podem envolver qualquer membro (geralmente todos os quatro) e a gravidade pode variar da ausência de falanges distais à ausência total de dígitos ou membros. A sinbraquidactilia também pode estar presente. Os doentes têm problemas com a fala, deglutição e mastigação, e apresentam anomalias craniofaciais adicionais (incluindo telecanto, defeitos na pálpebra inferior, nariz largo, microstomia, fendas variáveis &#8203;&#8203;ou inserções aberrantes da língua, hipodontia mandibular, fenda palatina, paralisias dos nervos cranianos e assimetria facial). Anomalias gengivais são frequentemente observadas. Inteligência e estatura são geralmente normais."},"pl":{"name":"Zespół niedorozwoju języka i hipodaktylii","synonyms":["Zespół aglosji i adactylii","Zespół Hanharta","Zespół Jussieu"],"definition":"Rzadki zespół mnogich wad wrodzonych/zespół dysmorficzny charakteryzujący się niedorozwojem języka, mikrognacją i różnymi nieprawidłowościami w obrębie kończyn. Wady kończyn mogą dotyczyć dowolnej kończyny (zwykle wszystkich czterech), a ich nasilenie obejmuje spektrum od braku dystalnych paliczków do całkowitego braku palców lub kończyn. Może również występować synbrachydaktylia. Pacjenci mają problemy z mową, połykaniem i żuciem, a także dodatkowe anomalie czaszkowo-twarzowe (telekantus, wady powiek dolnych, szeroki nos, mikrostomia, zmienne rozszczepienie lub nieprawidłowe przyczepy języka, hipodoncja żuchwy, rozszczep podniebienia, porażenie nerwów czaszkowych i asymetria twarzy). Często obserwuje się nieprawidłowości w obrębie dziąseł. Inteligencja i wzrost są na ogół prawidłowe."},"cs":{"name":"Syndrom zahrnující hypoglosii a hypodaktylii","synonyms":["Syndrom zahrnující aglosii a adaktylii","Hanhartův syndrom","Jussieův syndrom"]},"uk":{"name":"Синдром гіпоглосії-гіподактилії","synonyms":["Синдром аглосія-адактилія","Синдром Ганхарта","Синдром Жюссьє"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by hypoglossia, micrognathia and variable limb abnormalities. Limb defects can involve any limb (usually all four) and the severity may vary from the absence of distal phalanges to total absence of digits or limbs. Synbrachydactyly may also be present. Patients have problems with speech, swallowing and mastication, and they have additional craniofacial anomalies (including telecanthus, lower eyelid defects, broad nose, microstomia, variable clefting or aberrant attachments of tongue, mandibular hypodontia, cleft palate, cranial nerve palsies, and facial asymmetry). Gingival abnormalities are frequently observed. Intelligence and stature are generally normal."},"zh":{"name":"缺舌-缺指综合征","synonyms":["Aglossia-adactylia综合征"]},"tr":{"name":"Hipoglosi-hipodaktili sendromu","synonyms":["Hanhart sendromu","Jussieu sendromu","Aglossi-adaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"103300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1085455469"},{"source":"MONDO","code":"0007073","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535629","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0595985","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"68","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":2749,"name":"Oromandibular-limb hypogenesis syndrome","classifications":[147,156,199,209]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":47.0,"area":"Worldwide","status":"Validated","source":"23431477[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23431477[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010295","label":"Aplasia/Hypoplasia of the tongue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009813","label":"Upper limb phocomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009776","label":"Adactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006265","label":"Aplasia/Hypoplasia of fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001543","label":"Gastroschisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005235","label":"Jejunal atresia","frequency":"Occasional (29-5%)","criteria":null}]}}