{"orpha":2278,"name":"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Passwell-Goodman-Siprkowski syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by nonbullous congenital ichthyosis (skin lesions are predominantly detected on the back and extensor surfaces of the limbs, including the flexures; the face is not affected), moderate intellectual disability, dwarfism and renal impairment. Moderate hirsutism may also be present. No significant facial dysmorphism has been reported. There have been no further descriptions in the literature since 1975.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2278/","orphanet_url":"https://www.orpha.net/en/disease/detail/2278","names":{"fr":{"name":"Syndrome d'ichtyose-déficience intellectuelle-nanisme-anomalie rénale","synonyms":["Syndrome de Passwell-Goodman-Siprkowski"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par une ichtyose congénitale non bulleuse (les lésions cutanées sont principalement observées sur le dos et les surfaces d'extension des membres, y compris sur les plis de flexion, le visage étant épargné), une déficience intellectuelle modérée, un nanisme et une insuffisance rénale. Un hirsutisme modéré peut également être présent. Aucune dysmorphie faciale significative n'a été rapportée. Aucun nouveau cas n'a été décrit dans la littérature depuis 1975."},"de":{"name":"Ichthyose-Intelligenzminderung-Kleinwuchs-Niereninsuffizienz-Syndrom","synonyms":["Passwell-Goodman-Ziprkowski-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien, das durch eine nicht bullöse kongenitale Ichthyose (Hautläsionen werden vorwiegend auf dem Rücken und den Streckseiten der Gliedmaßen, einschließlich der Beugen, festgestellt; das Gesicht ist nicht betroffen), mäßige Intelligenzminderung, Kleinwuchs und Nierenfunktionsstörungen gekennzeichnet ist. Mäßiger Hirsutismus kann ebenfalls vorhanden sein. Es gab keine Berichte über signifikante Gesichtsdysmorphie. Seit 1975 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de ictiosis-discapacidad intelectual-talla baja significativa-afectación renal","synonyms":["Síndrome de Passwell-Goodman-Siprkowski"],"definition":"Es un síndrome poco frecuente de anomalías congénitas múltiples caracterizado por ictiosis congénita no ampollosa (las lesiones cutáneas se detectan predominantemente en la espalda y en las superficies extensoras de las extremidades, incluyendo las flexuras; la cara no se ve afectada), discapacidad intelectual moderada, talla baja significativa e insuficiencia renal. También puede asociar hirsutismo moderado. No se ha descrito dismorfia facial significativa. No se han publicado más descripciones en la literatura desde 1975."},"it":{"name":"Sindrome ittiosi-disabilità intellettiva-nanismo-insufficienza renale","synonyms":["Sindrome di Passwell-Goodman-Siprkowski"]},"nl":{"name":"Ichthyosis - intellectuele achterstand - dwerggroei - nierfunctiestoornis-syndroom","synonyms":["Syndroom van Passwell-Goodman-Siprkowski"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door niet-bulleuze congenitale ichthyosis (huidlaesies worden vooral waargenomen op de rug en op oppervlakken aan de strekzijde van de ledematen, inclusief de flexurae; het aangezicht wordt niet aangetast), matige intellectuele achterstand, dwerggroei, en nierfunctiestoornis. Matig hirsutisme kan ook aanwezig zijn. er werd geen significante faciale dysmorfie gerapporteerd. Sinds 1975 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ictiose-perturbação do desenvolvimento intelectual-nanismo-disfunção renal","synonyms":["Síndrome Passwell-Goodman-Siprkowski"]},"pl":{"name":"Rybia łuska - niepełnosprawność intelektualna - karłowatość - niewydolność nerek","synonyms":["Zespół Passwella, Goodmana i Siprkowskiego"]},"cs":{"name":"Syndrom zahrnující ichtyózu, mentální retardaci, trpaslictví a poruchu ledvin","synonyms":["Passwellův-Goodmanové-Ziprkowského syndrom","Passwell-Goodman-Ziprkowského syndrom"]},"uk":{"name":"Синдром іхтіозу-інтелектуальної недостатності-карликовості- ниркової недостатності","synonyms":["Синдром Пассвелла-Гудмана-Сипковського"],"definition":"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive."},"zh":{"name":"鱼鳞病-智力障碍-侏儒症-肾损害综合征","synonyms":["Passwell-Goodman-Siprkowski 综合征"]},"tr":{"name":"İktiyoz-zihinsel yetersizlik-cücelik-böbrek yetmezliği sendromu","synonyms":["Passwell-Goodman-Siprkowski sendromu"]}},"xrefs":[{"source":"OMIM","code":"242530","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009446","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536274","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518580","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4641","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":281244,"name":"Autosomal ichthyosis syndrome with other associated signs","classifications":[156,187]},{"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":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"1149323[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_ 1149323[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-19","source":null,"terms":[{"hpo":"HP:0007479","label":"Congenital nonbullous ichthyosiform erythroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}