{"orpha":2959,"name":"Progeria-short stature-pigmented nevi syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mulvihill-Smith syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation and short stature, microcephaly, premature aging, bird-like facies with lack of facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and variable intellectual disability. Immunodeficiency and development of tumors have also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2959/","orphanet_url":"https://www.orpha.net/en/disease/detail/2959","names":{"fr":{"name":"Syndrome de progeria-petite taille-naevus pigmentés","synonyms":["Syndrome de Mulvihill-Smith","Syndrome de progeria-petite taille-naevi pigmentés"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par un retard de croissance intra-utérin et une petite taille, une microcéphalie, un vieillissement prématuré, un faciès dit en tête d'oiseau avec absence de tissu adipeux sous-cutané au niveau du visage, de multiples naevus pigmentés, une perte auditive neurosensorielle et une déficience intellectuelle variable. Une immunodéficience et le développement de tumeurs ont également été décrits."},"de":{"name":"Progerie - Kleinwuchs - Pigmentnaevi","synonyms":["Mulvihill-Smith-Syndrom"],"definition":"Ein seltene progeroide Erkrankung, die durch multiple angeborene Anomalien/Dysmorphien gekennzeichnet ist. Charakteristische Merkmale sind intrauterine Wachstumsverzögerung und Kleinwuchs, Mikrozephalie, vorzeitiges Altern, vogelähnliches Gesicht mit fehlendem subkutanem Fettgewebe im Gesicht, multiple pigmentierte Nävi, sensorineuralen Hörverlust und variable Intelligenzminderung. Auch Immundefekte und die Entwicklung von Tumoren wurden beschrieben."},"es":{"name":"Síndrome de progeria-talla baja-nevos pigmentados","synonyms":["Síndrome de Mulvihill-Smith"],"definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples, genético y poco frecuente, caracterizado por retraso del crecimiento intrauterino y talla baja, microcefalia, envejecimiento precoz, facies de pájaro con falta de grasa subcutánea facial, múltiples nevos pigmentados, hipoacusia neurosensorial y discapacidad intelectual variable. También se han descrito inmunodeficiencia y desarrollo de tumores."},"it":{"name":"Progeria - bassa statura - nevi pigmentati","synonyms":["Sindrome di Mulvihill-Smith"]},"nl":{"name":"Progeria - kleine gestalte - gepigmenteerde naevi-syndroom","synonyms":["Syndroom van Mulvihill-Smith"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door intra-uteriene groeiretardatie en kleine gestalte, microcefalie, premature veroudering, vogelachtig aangezicht met gebrek aan faciaal subcutaan vetweefsel, multipele gepigmenteerde naevi, sensorineuraal gehoorverlies, en variabele intellectuele achterstand. Immuundeficiëntie en ontwikkeling van tumoren werden ook reeds beschreven."},"pt":{"name":"Síndrome de progeria-baixa estatura-nevos pigmentados","synonyms":["Síndrome Mulvihill-Smith"],"definition":"Síndrome genética rara de múltiplas anomalias congénitas/dismórficas caracterizada por atraso de crescimento intrauterino e baixa estatura, microcefalia, envelhecimento prematuro, fácies semelhante a uma ave com ausência de gordura subcutânea facial, múltiplos nevos pigmentados, perda auditiva neurossensorial e perturbação do desenvolvimento intelectual variável. Imunodeficiência e o surgimento de tumores também foram descritos."},"pl":{"name":"Progeria - niski wzrost - znamię barwnikowe","synonyms":["Zespół Mulvihilla i Smitha"],"definition":"Rzadki, genetycznie uwarunkowany zespół mnogich wad wrodzonych/dysmorfii, charakteryzujący się wewnątrzmacicznym zahamowaniem wzrostu i niskim wzrostem, małogłowiem, przedwczesnym starzeniem, ptasią twarzą z brakiem podskórnej tkanki tłuszczowej twarzy, licznymi znamionami barwnikowymi, niedosłuchem odbiorczym i zmienną niepełnosprawnością intelektualną. Opisywano również niedobór odporności i rozwój nowotworów."},"cs":{"name":"Syndrom zahrnující progerii, malý vzrůst a pigmentové névy","synonyms":["Mulvihillův-Smithův syndrom","Mulvihill-Smithův syndrom"]},"uk":{"name":"Синдром прогерії-низькорослості-пігментних невусів","synonyms":["Синдром Малвігілла-Сміта"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation and short stature, microcephaly, premature aging, bird-like facies with lack of facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and variable intellectual disability. Immunodeficiency and development of tumors have also been described."},"zh":{"name":"早衰-身材矮小-色素痣综合征","synonyms":["Mulvihill-Smith综合征"]},"tr":{"name":"Progeria-kısa boy pigmentli nevüs sendromu","synonyms":["Mulvihill-Smith sendromu"]}},"xrefs":[{"source":"OMIM","code":"176690","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"725727325"},{"source":"MONDO","code":"0008311","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536422","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1261128","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4494","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":79389,"name":"Premature aging","classifications":[156,187]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"29718885[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29718885[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-03","source":"19213035[PMID]_4155966[PMID]_3351893[PMID]_8456831[PMID]_16364148[PMID]","terms":[{"hpo":"HP:0003808","label":"Abnormal muscle tone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010663","label":"Abnormality of thalamus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000585","label":"Band keratopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000320","label":"Bird-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep apnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008214","label":"Decreased serum estradiol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025124","label":"Fragile teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007481","label":"Hyperpigmented nevi","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005320","label":"Lack of facial subcutaneous fat","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000408","label":"Progressive sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001592","label":"Selective tooth agenesis","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:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005115","label":"Supraventricular arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040160","label":"Generalized osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}