{"orpha":2776,"name":"Autosomal recessive distal osteolysis syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Distal osteolysis-short stature-intellectual disability syndrome","Petit-Fryns syndrome"],"definition":"A rare primary osteolysis characterized by severe distal osteolysis, mild to moderate intellectual deficiency, short stature, and facial dysmorphism (including maxillary hypoplasia, relative exophthalmos, and broad nasal tip). Patients present with early-onset and rapidly progressive osteolysis, manifests as severe resorption abnormalities in the hands and feet with absence of the distal and middle phalanges. Distal ulnar and radial epiphyses may also be affected. Joint limitation and flexion contractures of the elbows and knees have also been reported. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2776/","orphanet_url":"https://www.orpha.net/en/disease/detail/2776","names":{"fr":{"name":"Syndrome d'ostéolyse distale autosomique récessif","synonyms":["Syndrome d'ostéolyse distale-petite taille-déficience intellectuelle","Syndrome de Petit-Fryns"],"definition":"Epilepsie focale de l'enfance rare caractérisée par des crises s'accompagnant de symptômes sensorimoteurs hémifaciaux, et par un électroencéphalogramme (EEG) mettant en évidence des ondes aiguës diphasiques dans la région rolandique. Il s'agit d'une épilepsie en lien avec l'âge évoluant de manière très favorable. L'épilepsie autolimitée avec pointes centro-temporales (SeLECTS pour Self-Limited Epilepsy with CentroTemporal Spikes) était anciennement connue sous le nom d'épilepsie rolandique bénigne ou d'épilepsie bénigne à pointes centro-temporales."},"de":{"name":"Osteolyse-Syndrom, distales, autosomal-rezessives","synonyms":["Distale Osteolyse mit Kleinwuchs und Intelligenzminderung","Petit-Fryns-Syndrom"],"definition":"Eine seltene syndromale Knochendysplasie, die durch eine schwere distale Osteolyse, leichte bis mäßige Intelligenzminderung, Kleinwuchs und Gesichtsdysmorphie (einschließlich Oberkieferhypoplasie, relativem Exophthalmus und breiter Nasenspitze) gekennzeichnet ist. Die Patienten weisen eine früh einsetzende und rasch fortschreitende Osteolyse auf, die sich als schwere Resorptionsanomalien in den Händen und Füßen mit Fehlen der distalen und mittleren Phalangen manifestiert. Auch die distalen Ulnar- und Radialis-Epiphysen können betroffen sein. Es wurde auch über Gelenkeinschränkungen und Beugekontrakturen an Ellenbogen und Knien berichtet. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de osteólisis distal autosómica recesiva","synonyms":["Síndrome de Petit-Fryns","Síndrome de osteólisis distal-talla baja-discapacidad intelectual"],"definition":"Es una osteólisis primaria poco frecuente caracterizada por osteólisis distal grave, deficiencia intelectual de leve a moderada, talla baja y dismorfia facial (incluyendo hipoplasia maxilar, exoftalmos relativo y punta nasal ancha). Los pacientes presentan osteólisis de inicio temprano rápidamente progresiva que se manifiesta como anomalías graves de la reabsorción en las manos y los pies, con ausencia de las falanges distal y media. También pueden verse afectadas las epífisis distales del cúbito y del radio. Además, se han descrito limitaciones articulares y contracturas en flexión en codos y rodillas. No ha habido más descripciones en la literatura desde 1993."},"it":{"name":"Sindrome da osteolisi distale, autosomica recessiva","synonyms":["Sindrome osteolisi distale-bassa statura-disabilità intellettiva","Sindrome Petit-Fryns"]},"nl":{"name":"Autosomaal recessief distale osteolyse-syndroom","synonyms":["Distale osteolyse - kleine gestalte - intellectuele achterstand-syndroom","Syndroom van Petit-Fryns"],"definition":"Een zeldzame primaire osteolyse, gekenmerkt door ernstige distale osteolyse, milde tot matige intellectuele deficiëntie, kleine gestalte, en faciale dysmorfie (met hypoplasie van maxilla, relatieve exoftalmie, en brede neuspunt). Patiënten presenteren zich met vroeg optredende en snel progressieve osteolyse, die zich manifesteert als ernstige afwijkingen van botresorptie in handen en voeten met afwezigheid van de distale en middelste falangen. Distale epifyses van ulna en radius kunnen ook aangetast zijn. Beperking van gewrichtsbeweging en flexiecontracturen van elleboog en knie werden ook reeds gerapporteerd. Sinds 1993 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de osteólise distal autossómica recessiva","synonyms":["Síndrome Petit-Fryns","Síndrome de osteólise distal-baixa estatura-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Autosomalny recesywny zespół osteolizy dystalnej","synonyms":["Osteoliza dystalna - niski wzrost - niepełnosprawność intelekualna","Zespół Petit i Frynsa"]},"cs":{"name":"Syndrom autozomálně recesivní distální osteolýzy","synonyms":["Syndrom zahrnující distální osteolýzu, malý vzrůst a mentální retardaci","Petitův-Frynsův syndrom","Petit-Frynsův syndrom"]},"uk":{"name":"Аутосомно-рецесивний синдром дистального остеолізу","synonyms":["Синдром дистального остеолізу - низькорослості - інтелектуальна недостатність","Синдром Пете-Френса"],"definition":"An early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait."},"zh":{"name":"常染色体隐性远端骨质溶解综合征","synonyms":["远端骨溶解-身材矮小-智力障碍综合征"]},"tr":{"name":"Otozomal resesif distal osteoliz sendromu","synonyms":["Petit-Fryns sendromu","Distal osteoliz-kısa boy-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"259610","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M89.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB86.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1878981266"},{"source":"MONDO","code":"0009810","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536052","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850143","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"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":93449,"name":"Primary osteolysis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","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:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}