{"orpha":3080,"name":"Intellectual disability, Wolff type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Wolff-Zimmermann syndrome"],"definition":"Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3080/","orphanet_url":"https://www.orpha.net/en/disease/detail/3080","names":{"fr":{"name":"Déficience intellectuelle type Wolff","synonyms":["Syndrome de Wolff-Zimmermann"],"definition":"La déficience intellectuelle type Wolff est un syndrome rare caractérisé par un déficit intellectuel sévère et une dysmorphie faciale caractéristique (implantation antérieure basse des cheveux, fentes palpébrales obliques vers le haut, hypertélorisme oculaire, large nez bulbeux, larges oreilles avec une hélice mal développée, lèvres épaisses, micrognathie). Les anomalies additionnelles incluent des contractures des articulations périphériques, un retard de la maturation squelettique, une fente labio-palatine bilatérale, un strabisme, une hypoplasie terminale des doigts, un hypospadias et une hernie inguinale bilatérale."},"de":{"name":"Intelligenzminderung Typ Wolff","synonyms":["Wolff-Zimmermann-Syndrom"],"definition":"Die Intelligenzminderung Typ Wolff ist ein seltenes Syndrom gekennzeichnet durch eine schwere Intelligenzminderung, charakteristische faziale Besonderheiten (tiefer vorderer Haaransatz, schräg ansteigende Lidspalten, okulärer Hypertelorismus, breite und knollige Nase, große Ohren mit inkompletter Helix, dicke Lippen und Mikrognathie). Weiterhin finden sich Kontrakturen der peripheren Gelenke, eine verzögerte Knochenreifung, beidseitige Lippen- und Gaumenspalten, Strabismus, terminale Hypoplasie der Finger, Hypospadie und bilaterale Leistenhernien."},"es":{"name":"Discapacidad intelectual tipo Wolff","synonyms":["Síndrome de Wolff-Zimmermann"],"definition":"La discapacidad intelectual, tipo Wolff es un síndrome de discapacidad intelectual poco frecuente caracterizado por discapacidad intelectual grave, rasgos faciales distintivos (línea anterior de implantación del cabello baja, fisuras palpebrales inclinadas hacia arriba, hipertelorismo ocular, nariz ancha y bulbosa, orejas grandes con hélice escasamente desarrollado, labios gruesos, y micrognatia) y otras anomalías, incluyendo contracturas de las articulaciones periféricas, retraso de la maduración esquelética, labio y paladar hendido bilateral, estrabismo, hipoplasia terminal de los dedos de las manos, hipospadias y hernias inguinales bilaterales."},"it":{"name":"Disabilità intellettiva, tipo Wolff","synonyms":["Sindrome di Wolff-Zimmermann"],"definition":"La disabilità intellettiva tipo Wolff è una malattia rara caratterizzata da grave disabilità intellettiva, dismorfismi facciali caratteristici (impianto arretrato dei capelli, rime palpebrali oblique verso l'alto, ipertelorismo oculare, naso ampio e globoso, orecchie grandi con elice iposviluppato, labbra carnose e micrognatia) e altre anomalie che comprendono le contratture delle articolazioni periferiche, il ritardo della maturazione scheletrica, la labioschisi e la palatoschisi bilaterali, lo strabismo, l'ipoplasia terminale delle dita, l'ipospadia e le ernie inguinali bilaterali."},"nl":{"name":"Intellectuele achterstand, Wolff-type","synonyms":["Syndroom van Wolff-Zimmermann"],"definition":"Intellectuele achterstand, Wolff-type is een zeldzaam mentale retardatiesyndroom dat wordt gekarakteriseerd door ernstige intellectuele beperkingen, typische faciale kenmerken (lage voorste haarlijn, schuin oplopende ooglidspleten, oculair hypertelorisme, een brede en bolvormige neus, grote oren met onvolledig ontwikkelde helix, dikke lippen, en micrognathie) en bijkomende afwijkingen waaronder perifere gewrichtscontracturen, vertraagde volgroeiing van het skelet, bilaterale gespleten lip en gehemelte, strabisme, terminale hypoplasie van de vingers, hypospadie, en bilaterale inguinale hernia's (liesbreuken)."},"pt":{"name":"Perturbação do desenvolvimento intelectual, tipo Wolff","synonyms":["Síndrome Wolff-Zimmermann"]},"pl":{"name":"Niepełnosprawność intelektualna typu Wolffa","synonyms":["Zespół Wolffa i Zimmermanna"]},"cs":{"name":"Mentální retardace, Wolffův typ","synonyms":["Wolffův-Zimmermannův syndrom","Wolff-Zimmermannův syndrom"]},"uk":{"name":"Інтелектуальна недостатність, тип Вольфа","synonyms":["Синдром Вольфа-Ціммермана"],"definition":"Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias."},"zh":{"name":"智力障碍，Wolff亚型","synonyms":["Wolff-Zimmermann综合征"]},"tr":{"name":"Zihinsel yetersizlik, Wolff tipi","synonyms":["Wolff-Zimmermann sendromu"]}},"xrefs":[{"source":"OMIM","code":"277990","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010203","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537448","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848439","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":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8151642[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8151642[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008559","label":"Hypoplastic superior helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}