{"orpha":2976,"name":"Pseudoleprechaunism syndrome, Patterson type","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Patterson pseudoleprechaunism syndrome","Patterson syndrome"],"definition":"Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2976/","orphanet_url":"https://www.orpha.net/en/disease/detail/2976","names":{"fr":{"name":"Pseudolepréchaunisme de Patterson","definition":"Maladie rare des surrénales d'origine génétique caractérisée par une hyperpigmentation congénitale de couleur bronze, une cutis laxa des mains et des pieds, une disproportion corporelle (mains, pieds, nez et oreilles de grande taille), un hirsutisme et une déficience intellectuelle sévère. Les patients présentent en outre un hyperadrénocorticisme, des caractéristiques cushingoïdes, une adrénarche prématurée et un diabète sucré, ainsi que des déformations squelettiques (absentes à la naissance et progressant avec l'âge). Aucun cas n'a été décrit dans la littérature depuis 1981."},"de":{"name":"Pseudo-Leprechaunismus-Syndrom Typ Patterson","synonyms":["Patterson Pseudo-Leprechaunismus-Syndrom","Patterson-Syndrom"]},"es":{"name":"Síndrome de pseudoleprechaunismo tipo Patterson","synonyms":["Síndrome de Patterson","Síndrome de pseudo leprechaunismo de Patterson"],"definition":"El síndrome de pseudoleprechaunismo, tipo Patterson, es un trastorno de las glándulas suprarrenales, genético y poco frecuente, caracterizado por hiperpigmentación bronceada congénita, laxitud de los tejidos blandos de manos y pies, desproporción corporal (que comprende manos, pies, nariz y orejas grandes), hirsutismo y discapacidad intelectual grave. Además, los afectados presentan hipercortisolismo, características cushingoides, adrenarquia prematura y diabetes mellitus, así como malformaciones esqueléticas (no presentes al nacimiento y que aparecen con la edad). No se han descrito nuevos casos en la literatura desde 1981."},"it":{"name":"Pseudoleprecaunismo, tipo Patterson","definition":"Lo pseudoleprecaunismo tipo Patterson è una malattia genetica rara dei surreni, caratterizzata da iperpigmentazione congenita color bronzo, cutis laxa sulle mani e sui piedi, sproporzione dello sviluppo (mani, piedi, naso e orecchie grandi), irsutismo e disabilità intellettiva grave. Inoltre, i pazienti presentano iperadrenocorticismo, sintomi cushingoidi, adrenarca precoce, diabete mellito e deformità scheletriche (non congenite, che si aggravano con l'età). Non sono stati descritti nuovi casi dopo il 1981."},"nl":{"name":"Pseudoleprechaunismesyndroom, Patterson-type","synonyms":["Pseudoleprechaunismesyndroom van Patterson","Syndroom van Patterson"],"definition":"Pseudoleprechaunismesyndroom, Patterson-type, is een zeldzame, genetische, adrenale stoornis die wordt gekarakteriseerd door congenitale bronzen hyperpigmentatie, cutis laxa van de handen en voeten, een disproportioneel lichaam (met grote handen, voeten, neus en oren), hirsutisme en ernstige intellectuele achterstand. Patiënten vertonen bijkomend hyperadrenocorticisme, Cushingoïde kenmerken, premature adrenarche en diabetes mellitus, alsook skeletmisvormingen (die niet aanwezig zijn bij de geboorte en evolueren met de leeftijd). Sinds 1981 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de pseudo-leprechaunismo, tipo Patterson","synonyms":["Síndrome de peudo-leprechaunismo de Patterson"]},"pl":{"name":"Zespół pseudoleprechaunizmu typu Pattersona","synonyms":["Patterson pseudoleprechaunism syndrome","Patterson syndrome"]},"cs":{"name":"Pseudoleprechaunismus, Pattersonův typ","synonyms":["Patterson pseudoleprechaunism syndrome","Patterson syndrome"]},"uk":{"name":"Синдром псевдолепреконізму, тип Паттерсона","synonyms":["Синдром псевдолепреконізму Паттерсона","Синдром Паттерсона"],"definition":"Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981."},"zh":{"name":"假性矮妖精貌综合征，Patterson型","synonyms":["Patterson假性矮妖精貌综合征"]},"tr":{"name":"Psödoleprekaunizm sendromu, Patterson tipi","synonyms":["Patterson sendromu","Patterson psödoleprekonizm sendromu"]}},"xrefs":[{"source":"OMIM","code":"169170","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008211","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536310","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868546","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4259","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":314749,"name":"Rare disease with adrenal Cushing syndrome as a major feature","classifications":[193]},{"orpha":183637,"name":"Rare genetic adrenal disease","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7277424 [PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7277424 [PMID][PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-23","source":"7277424[PMID]_14484402[PMID]","terms":[{"hpo":"HP:3000077","label":"Abnormal mandible condylar process morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012767","label":"Abnormal placental size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0430005","label":"Abnormality of ethmoid bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006505","label":"Abnormality of limb epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003310","label":"Abnormality of the odontoid process","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000015","label":"Bladder diverticulum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008788","label":"Delayed pubic bone ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003180","label":"Flat acetabular roof","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007574","label":"Generalized bronze hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0430028","label":"Hyperplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004979","label":"Metaphyseal sclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007517","label":"Palmoplantar cutis laxa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030348","label":"Increased circulating androgen concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012412","label":"Premature adrenarche","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Excluded (0%)","criteria":null}]}}