{"orpha":3219,"name":"Fountain syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Deafness-skeletal dysplasia-coarse face with full lips syndrome","Deafness-skeletal dysplasia-lip granuloma syndrome","Hearing loss-skeletal dysplasia-coarse face with full lips syndrome","Hearing loss-skeletal dysplasia-lip granuloma syndrome"],"definition":"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3219/","orphanet_url":"https://www.orpha.net/en/disease/detail/3219","names":{"fr":{"name":"Syndrome de Fountain","synonyms":["Syndrome de surdité-dysplasie squelettique-granulome labial","Syndrome de surdité-dysplasie squelettique-visage aux traits grossiers avec lèvres épaisses"],"definition":"Le syndrome de Fountain est un trouble génétique multi-systémique extrêmement rare caractérisé par un déficit intellectuel, une surdité, des anomalies du squelette et des traits grossiers du visage."},"de":{"name":"Fountain-Syndrom","synonyms":["Schwerhörigkeit - Skelettdysplasie - Lippen-Granulom"],"definition":"Das Fountain-Syndrom ist eine extrem seltene genetische Multisystemstörung mit Intelligenzminderung, Schwerhörigkeit, Skelettanomalien und vergröberten Gesichtszügen."},"es":{"name":"Síndrome de Fountain","synonyms":["Síndrome de hipoacusia-displasia esquelética-cara tosca y labios grandes","Síndrome de hipoacusia-displasia esquelética-granuloma labial","Síndrome de sordera-displasia esquelética-cara tosca y labios grandes","Síndrome de sordera-displasia esquelética-granuloma labial"],"definition":"El síndrome de Fountain es un trastorno genético multisistémico extremadamente raro caracterizado por déficit intelectual, sordera, anomalías esqueléticas y rasgos faciales toscos."},"it":{"name":"Sindrome di Fountain","synonyms":["Sordità - displasia scheletrica - faccia grossolana con labbra carnose","Sordità - displasia scheletrica - granuloma del labbro"],"definition":"La sindrome di Fountain è una malattia genetica multisistemica estremamente rara caratterizzata da disabilità cognitiva, sordità, anomalie scheletriche e caratteristiche facciali grossolane."},"nl":{"name":"Syndroom van Fountain","synonyms":["Doofheid - skeletdysplasie - grof gelaat met volle lippen-syndroom","Doofheid - skeletdysplasie - lipgranuloom-syndroom"],"definition":"Fountainsyndroom is een uiterst zeldzame, multisystemische, genetische aandoening gekenmerkt door een intellectuele achterstand, doofheid, skeletale afwijkingen en grove gelaatskenmerken."},"pt":{"name":"Síndrome Fountain","synonyms":["Síndrome de perda auditiva-displasia esquelética-granuloma do lábio","Síndrome de surdez-displasia esquelética-granuloma do lábio"]},"pl":{"name":"Zespół Fountaina","synonyms":["Głuchota - dysplazja szkieletowa - gruba twarz z pełnymi ustami","Głuchota - dysplazja szkieletowa - ziarniniak wargi"]},"cs":{"name":"Fountainův syndrom","synonyms":["Syndrom zahrnující hluchotu, skeletální dysplázii a granulomy rtu","Syndrom zahrnující hluchotu, skeletální dysplázii a hrubé rysy obličeje s plnými rty"]},"uk":{"name":"Синдром Фонтейну","synonyms":["Синдром глухоти-скелетної дисплазії-грубого обличчя з повними губами","Синдром глухоти-скелетної дисплазії-гранульоми губ","Синдром втрати слуху - скелетної дисплазії - грубого обличчя з повними губами","Синдром втрати слуху - скелетної дисплазії - гранульоми губ"],"definition":"Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features."},"zh":{"name":"Fountain综合征","synonyms":["听力丧失-骨骼发育不良-特殊面容伴嘴唇丰满综合征"]},"tr":{"name":"Fountain sendromu","synonyms":["Sağırlık-iskelet displazisi-dudak granülom sendromu","İşitme kaybı-iskelet displazisi-dudak granülom sendromu","Sağırlık-iskelet displazisi-dolgun dudak sendromu ile seyreden kaba yüz","İşitme kaybı-iskelet displazisi-dolgun dudak sendromu ile seyreden kaba yüz"]}},"xrefs":[{"source":"OMIM","code":"229120","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1757651132"},{"source":"MONDO","code":"0009241","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537270","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795944","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"64","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083946","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]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"8897038[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8897038[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100670","label":"Rough bone trabeculation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}