{"orpha":2963,"name":"Progeroid syndrome, Petty type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Petty syndrome","Petty-Laxova-Wiedemann syndrome"],"definition":"Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2963/","orphanet_url":"https://www.orpha.net/en/disease/detail/2963","names":{"fr":{"name":"Syndrome progéroïde type Petty","synonyms":["Syndrome de Petty","Syndrome de Petty-Laxova-Wiedemann"],"definition":"Syndrome rare de vieillissement prématuré caractérisé par un retard de croissance pré- et post-natal, une apparence congénitale de vieillissement prématuré et une dysmorphie craniofaciale caractéristique (calvarium large, grande fontanelle antérieure ouverte et large suture métopique, front large, visage menu, micrognathie), une nette diminution de la graisse sous-cutanée, une cutis laxa et une peau ridée, sans retard de développement psychomoteur. Par ailleurs, des cheveux clairsemés et cassants, des ongles hypoplastiques et une dentition retardée et anormale, ainsi que des phalanges distales hypoplastiques, une hernie ombilicale et des anomalies oculaires (myopie/hypermétropie, strabisme) sont fréquemment associés."},"de":{"name":"Progerie-Syndrom Typ Petty","synonyms":["Petty-Laxova-Wiedemann-Syndrom","Petty-Syndrom"]},"es":{"name":"Síndrome progeroide tipo Petty","synonyms":["Síndrome de Petty","Síndrome de Petty-Laxova-Wiedemann"],"definition":"Es un síndrome de envejecimiento prematuro poco frecuente caracterizado por retraso del crecimiento pre- y postnatal, una apariencia congénita de envejecimiento prematuro con dismorfia craneofacial distintiva (calota craneal ancha con fontanela anterior grande y abierta así como sutura metópica ancha, frente ancha, cara pequeña, micrognatia), disminución notable de la grasa subcutánea, cutis laxa y piel arrugada, sin retraso del desarrollo psicomotor. También se asocian pelo quebradizo y escaso, uñas hipoplásicas y dentición retrasada y anómala, así como falanges distales hipoplásicas, hernia umbilical y anomalías oculares (miopía / hipermetropía, estrabismo)."},"it":{"name":"Sindrome progeroide, tipo Petty","synonyms":["Sindrome di Petty","Sindrome di Petty-Laxova-Wiedemann"],"definition":"La sindrome progeroide tipo Petty è una malattia da invecchiamento precoce, caratterizzata da ritardo della crescita pre- e post-natale, aspetto congenito di invecchiamento precoce, dismorfismi craniofacciali caratteristici (ampio calvario, fontanella anteriore e sutura metopica, fronte larga, viso piccolo, micrognazia), marcata riduzione del grasso sottocutaneo, cutis laxa e cute rugosa, in assenza di ritardo dello sviluppo psicomotorio. Spesso i pazienti presentano capelli radi e fragili, ipoplasia delle unghie, ritardo e anomalie della dentizione, falangi distali ipoplastiche, ernia ombelicale e anomalie oculari (miopia/iperopia, strabismo)."},"nl":{"name":"Progeroïd syndroom, Petty-type","synonyms":["Syndroom van Petty","Syndroom van Petty-Laxova-Wiedemann"],"definition":"Progeroïd syndroom, Petty-type, is een zeldzaam prematuur verouderingssyndroom dat gekarakteriseerd wordt door pre- en postnatale groeiretardatie, een congenitaal prematuur verouderd uiterlijk met typische craniofaciale dysmorfie (breed schedeldak met groot open voorste fontanel en brede metopische sutuur, breed voorhoofd, klein gezicht, micrognathie), duidelijk verminderde hoeveelheid subcutaan vet, cutis laxa en gerimpelde huid, zonder psychomotorische ontwikkelingsachterstand. Weinig en broos haar, hypoplastische nagels en vertraagde, abnormale dentitie, alsook hypoplastische distale falangen, navelbreuk en oogafwijkingen (myopie/hyperopie, strabisme) zijn doorgaans ook geassocieerd."},"pt":{"name":"Síndrome progeróide, tipo Petty","synonyms":["Síndrome Petty","Síndrome Petty-Laxova-Wiedemann"]},"pl":{"name":"Zespół progeroidalny, typ Petty","synonyms":["Zespół Petty","Zespół Petty, Laxova i Wiedemanna"],"definition":"*Zespół progeroidalny typ Petty jest rzadkim zespołem przedwczesnego starzenia, który charakteryzuje się przed- i postnatalnym opóźnieniem wzrastania, wrodzonym przedwcześnie starczym wyglądem z charakterystyczną dysmorfią czaszkowo-twarzową (szerokie sklepienie kości czaszki z dużym otwartym przednim ciemiączkiem i szerokim szwem czołowym, szerokie czoło, mała twarz, mikrognacja), znacznie zredukowną tkanką tłuszczową podskórną, luźną i pomarszczoną skórą, bez towarzyszącego opóźnienia rozwoju psychoruchowego. Często obserwuje się rzadkie, łamliwe włosy, hipoplastyczne paznokcie i opóźnione, nieprawidłowe wyrzynanie zębów, a także hipoplazję dystalnych paliczków, przepuklinę pępkową i wady narządu wzroku (krótkowzroczność/nadwzroczność, zez)."},"cs":{"name":"Progeroidní syndrom, typ Pettyové","synonyms":["Pettyové syndrom","Pettyové-Laxové-Wiedemannův syndrom","Petty-Laxova-Wiedemannův syndrom"]},"uk":{"name":"Прогероїдний синдром, тип Петті","synonyms":["Прогероїдний синдром Фонтена","Дрібязковий синдром","Синдром Петті-Лаксова-Відемана"],"definition":"Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated."},"zh":{"name":"早衰综合征，Petty型","synonyms":["Petty-Laxova-Wiedemann 综合征"]},"tr":{"name":"Progeroid sendromu, Küçük tip","synonyms":["Petty sendrom","Fontaine progeroid sendromu","Petty-Laxova-Wiedemann sendromu"]}},"xrefs":[{"source":"OMIM","code":"612289","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012853","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567360","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2676780","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4497","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":697101,"name":"Fontaine progeroid syndrome","classifications":[147,156,187,196]}],"children":[],"genes":[{"symbol":"SLC25A24","name":"solute carrier family 25 member 24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100094[PMID]","hgnc":"20662","ensembl":"ENSG00000085491","omim":"608744","loci":["1p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"2309786[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2309786[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007740","label":"Long eyelashes in irregular rows","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003758","label":"Reduced subcutaneous adipose tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009721","label":"Shagreen patch","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},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Very frequent (99-80%)","criteria":null}]}}