{"orpha":221120,"name":"Pseudoaminopterin syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ASSA","Aminopterin syndrome-like sine aminopterin"],"definition":"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-221120/","orphanet_url":"https://www.orpha.net/en/disease/detail/221120","names":{"fr":{"name":"Syndrome pseudo-aminoptérine","definition":"Syndrome avec anomalies du développement similaires à celles observées dans l'embryopathie à l'aminoptérine sans antécédents d'exposition foetale à l'aminoptérine. Il se caractérise par des anomalies du crâne (craniosynostose et minéralisation insuffisante de la voûte crânienne), par une dysmorphie (hypertélorisme oculaire, anomalies des fentes palpébrales, micrognathie, fente labiale et/ou palais ogival et petites oreilles d'implantation basse et orientées en arrière) et des malformations des membres (brachydactylie, syndactylie et clinodactylie), associées à une déficience intellectuelle légère à modérée et à une petite taille."},"de":{"name":"Pseudoaminopterin-Syndrom","synonyms":["ASSA","Aminopterin-ähnliches Syndrom sine Aminopterin"],"definition":"Das Pseudo-Aminopterin-Syndrom ist ein Syndrom mit Entwicklungsanomalien, das der Aminopterin-Embryopathie (s. dort) ähnelt, ohne dass eine Exposition des Feten mit Aminopterin stattfand. Kennzeichnend sind Anomalien des Schädels (Kraniosynostose, ungenügend mineralisiertes Schädeldach), Dysmorphien (Hypertelorismus, Anomalien der Lidspalten, Mikrogenie, Lippenspalte und/oder hoher Gaumenbogen und kleine tief sitzende/rotierte Ohren), Fehlbildungen der Gliedmassen (Brachydaktylie, Syndaktylie, Klinodaktylie), mildes bis moderates intellektuelles Defizit und Kleinwuchs."},"es":{"name":"Síndrome de pseudoaminopterina","definition":"El síndrome de pseudoaminopterina es un síndrome de anomalías en el desarrollo que se asemeja a la embriopatía por aminopterina (consulte este término) sin historia de exposición fetal a la aminopterina. Se caracteriza por anomalías en el cráneo (craneosinostosis y bóveda craneal pobremente mineralizada), anomalías dismórficas (hipertelorismo ocular, anomalías de las fisuras palpebrales, micrognatia, labio leporino y/o paladar ojival y orejas pequeñas de implantación baja/giradas) y de las extremidades (braquidactilia, sindactilia y clinodactilia), asociado con déficit intelectual de leve a moderado y estatura baja."},"it":{"name":"Sindrome da pseudoaminopterina","synonyms":["ASSA","Sindrome da pseudoaminopterina senza aminopterina"],"definition":"La sindrome da pseudoaminopterina è una condizione con anomalie dello sviluppo simili a quelle osservate nell'embriopatia da aminopterina (si veda questo termine), in assenza di un'anamnesi positiva per l'esposizione fetale all'aminopterina. È caratterizzata da anomalie craniche (craniosinostosi e scarsa mineralizzazione della volta cranica), dismorfismi (ipertelorismo oculare, anomalie delle rime palpebrali, micrognatia, labioschisi e/o palato ogivale e orecchie piccole e a impianto basso/ruotate) e anomalie degli arti (brachidattilia, sindattilia e clinodattilia), associate a deficit cognitivo lieve-moderato e bassa statura."},"nl":{"name":"Pseudoaminopterinesyndroom","synonyms":["ASSA","Aminopterinesyndroom-achtig zonder aminopterine"],"definition":"Een syndroom met ontwikkelingsanomalieën, gelijkend op aminopterine-embryopathie, zonder voorgeschiedenis van foetale blootstelling aan aminopterine. Pseudoaminopterinesyndroom wordt gekenmerkt door anomalieën van schedel (craniosynostose en ondermaats gemineraliseerd schedeldak), dysmorfie (oculair hypertelorisme, anomalieën van ooglidspleet, micrognathie, gespleten lip en/of hoog gebogen verhemelte, en kleine en laagstaande/gedraaide oren), en anomalieën van ledematen (brachydactylie, syndactylie en clinodactylie), geassocieerd met milde tot matige intellectuele achterstand en kleine gestalte."},"pt":{"name":"Síndrome pseudoaminopterina"},"pl":{"name":"Zespół pseudoaminopterynowy","synonyms":["ASSA","Zespół podobny do zespołu aminopterynowego bez aminopteryny"]},"cs":{"name":"Pseudoaminopterinový syndrom","synonyms":["ASSA","Syndrom podobný aminopterinovému syndromu, bez expozice aminopterinu"]},"uk":{"name":"Псевдоаміноптериновий синдром","synonyms":["Аміноптериновий синдром, подібний до синусного аміноптерину","ASSA"],"definition":"Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature."},"zh":{"name":"伪氨基蝶呤综合症","synonyms":["氨基蝶呤综合症样氨基喋呤"],"definition":"假性氨基蝶呤综合征是一种发育异常综合征，类似于氨基蝶呤胚胎病（见该词条），无氨基蝶呤胎儿期接触史。其特征是颅骨异常（颅缝早闭和颅顶低矿化）、异形特征（眼距过宽、睑裂异常、小颌裂唇裂和/或高腭弓、小耳和低位/旋耳）和肢体异常（短指、并指和弯指），与轻度到中度智力缺陷和身材矮小有关。"},"tr":{"name":"Psödoaminopterin sendromu","synonyms":["ASSA","Aminopterin sendromu-benzeri sinüs aminopterin"]}},"xrefs":[{"source":"OMIM","code":"600325","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"893045173"},{"source":"MONDO","code":"0010865","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535823","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795939","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4544","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":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"22811276[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22811276[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-30","source":"3621652[PMID]_7888136[PMID]_19938091[PMID]_22811276[PMID]","terms":[{"hpo":"HP:0009911","label":"Abnormal temporal bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002236","label":"Frontal upsweep of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","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:0002996","label":"Limited elbow movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010657","label":"Patchy reduction of bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000387","label":"Absent earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001746","label":"Asplenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040025","label":"Clinodactyly of the 4th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001864","label":"Clinodactyly of the 5th toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030043","label":"Hip subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009739","label":"Hypoplasia of the antihelix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008598","label":"Mild conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100259","label":"Postaxial polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025193","label":"Posterolateral diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000884","label":"Prominent sternum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010767","label":"Sacrococcygeal pilonidal abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004442","label":"Sagittal craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001238","label":"Slender finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004684","label":"Talipes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null}]}}