{"orpha":370010,"name":"Intellectual disability-facial dysmorphism-hand anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370010/","orphanet_url":"https://www.orpha.net/en/disease/detail/370010","names":{"fr":{"name":"Syndrome de déficience intellectuelle-dysmorphie faciale-anomalies des mains","definition":"Déficience intellectuelle syndromique rare caractérisée par une déficience intellectuelle modérée, des anomalies variables des mains (brachydactylie, syndactylie cutanée et osseuse) et une dysmorphie faciale à type de fentes palpébrales courtes, de pointe nasale bulbeuse, de vermillon supérieur et inférieur mince et de menton large et pointu. D'autres caractéristiques, telles qu'une obésité, une microcéphalie, une petite taille et un sourire «&nbsp;grimaçant&nbsp;», peuvent être observées."},"de":{"name":"Intelligenzminderung-Gesichtsdysmorphien-Handanomalien-Syndrom"},"es":{"name":"Síndrome de discapacidad intelectual-dismorfia facial-anomalías en las manos","definition":"El síndrome de discapacidad intelectual - dismorfia facial - anomalías de las manos es un trastorno de discapacidad intelectual sindrómica poco frecuente. Está caracterizado por discapacidad intelectual moderada, anomalías de la mano variables (braquidactilia, sindactilia cutánea y ósea) y dismorfia facial que incluye fisuras palpebrales cortas, punta nasal bulbosa, bermellón superior e inferior delgados, y mentón ancho y puntiagudo. También se pueden observar otras características, tales como obesidad, microcefalia, talla baja y sonrisa de mueca."},"it":{"name":"Sindrome da disabilità intellettiva, dismorfismi facciali e anomalie delle mani","definition":"La sindrome che associa la disabilità intellettiva, i dismorfismi facciali e le anomalie delle mani è una malattia rara da disabilità intellettiva sindromica, caratterizzata da disabilità intellettiva moderata, anomalie delle mani di gravità variabile (brachidattilia, sindattilia cutanea ed ossea) e dismorfismi facciali (rime palpebrali corte, punta del naso globosa, assottigliamento della porzione mucosa del labbro superiore e inferiore, mento appuntito). Possono associarsi altri segni clinici, come l'obesità, la microcefalia, la bassa statura e il sorriso che configura una smorfia."},"nl":{"name":"Intellectuele achterstand - faciale dysmorfie - handanomalieën-syndroom","definition":"Intellectuele achterstand - faciale dysmorfie - handanomalieën-syndroom is een zeldzame, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door matige intellectuele achterstand, variabele handafwijkingen (waaronder brachydactylie, cutane en osseuze syndactylie), en faciale dysmorfie met onder meer korte ooglidspleten, bolle neuspunt, dun bovenste en onderste vermiljoen, en brede en puntige kin. Er worden ook andere kenmerken waargenomen, waaronder obesitas, microcefalie, kleine gestalte en een grimassende glimlach."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-dismorfia facial-anomalias das mãos"},"pl":{"name":"Zespół niepełnosprawność intelektualna-dysmorfia twarzy-wady dłoni","definition":"*Zespół niepełnosprawność intelektualna-dysmorfia twarzy-wady dłoni jest rzadkim zespołem niepełnosprawności intelektualnej, który charakteryzuje się niepełnosprawnością intelektualną umiarkowanego stopnia, różnymi wadami dłoni (w tym brachydaktylią, syndaktylią skórną i kostną) oraz dysmorfią twarzy, na którą składają się: krótkie szpary powiekowe, bulwiasty czubek nosa, cienka górna i dolna czerwień wargowa i szeroki, spiczasty podbródek. Mogą wystąpić inne objawy, w tym otyłość, małogłowie, niski wzrost i grymas twarzy przy uśmiechu."},"cs":{"name":"Syndrom zahrnující mentální retardaci, faciální dysmorfismus a anomálie rukou"},"uk":{"name":"Синдром інтелектуальної недостатності-дизморфізму обличчя-аномалій кистей рук","definition":"Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed."},"zh":{"name":"智力障碍-面部畸形-手畸形综合征","definition":"智力障碍-面部畸形-手畸形综合征是一种罕见的综合征性智力障碍，其特征是中度智力障碍、可变的手部畸形(包括短指、皮肤融合性和骨性融合并指)，以及面部畸形，包括睑裂短、球状鼻、上下唇红薄和宽、尖下巴。本病还可以观察到其他特征包括肥胖、小头畸形、身材矮小和苦笑面容。"},"tr":{"name":"Zihinsel yetersizlik-yüz dismorfizm-el anomalileri sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018253","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750848","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 recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23949889[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-21","source":"23949889[PMID]","terms":[{"hpo":"HP:0011822","label":"Broad chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011939","label":"3-4 finger cutaneous syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001965","label":"Abnormality of the scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009611","label":"Bifid distal phalanx of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004602","label":"Cervical C2/C3 vertebral fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009644","label":"Curved distal phalanx of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000273","label":"Facial grimacing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012553","label":"Hypoplastic thumbnail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012713","label":"Moderate hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010492","label":"Osseous finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010041","label":"Short 3rd metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010047","label":"Short 5th metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009650","label":"Short distal phalanx of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009648","label":"Triangular shaped distal phalanx of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null}]}}