{"orpha":363649,"name":"Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MDP syndrome","MDPL syndrome","Mandibular hypoplasia-hearing loss-progeroid syndrome"],"definition":"A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363649/","orphanet_url":"https://www.orpha.net/en/disease/detail/363649","names":{"fr":{"name":"Syndrome d'hypoplasie mandibulaire-surdité-apparence progéroïde-lipodystrophie","synonyms":["Syndrome MDP","Syndrome MDPL"],"definition":"Syndrome rare de vieillissement prématuré d'origine génétique, caractérisé par une surdité neurosensorielle, un manque généralisé de tissu adipeux sous-cutané (malgré un dépôt excessif au niveau du tronc) dès l'enfance, une sclérodermie et une dysmorphie faciale à type de grands yeux, de nez aquilin, de petite bouche, d'encombrement dentaire et d'hypoplasie mandibulaire. Les autres manifestations associées comprennent un retard de croissance, des contractures articulaires, une télangiectasie, un hypogonadisme (avec un développement mammaire insuffisant chez les filles), une cryptorchidie, une atrophie musculaire squelettique, une hypertriglycéridémie et un diabète sucré/une résistance à l'insuline."},"de":{"name":"Mandibuläre Hypoplasie-Schwerhörigkeit-Progeroide Merkmale-Lipodystrophie-Syndrom","synonyms":["MDPL-Syndrom","Mandibuläre Hypoplasie-Hörverlust-Progeroid-Syndrom"],"definition":"Eine genetisch bedingte vorzeitige Form der Alterung, die durch sensorineurale Taubheit, einen allgemeinen Mangel an subkutanem Fettgewebe (obwohl mit vermehrter Ablagerung im Rumpfbereich), der bereits in der Kindheit festgestellt wird, Sklerodermie und Gesichtsdysmorphien wie hervorstehende Augen, eine Schnabelnase, einen kleinen Mund, engstehende Zähne und eine Unterentwicklung des Unterkiefers gekennzeichnet ist. Weitere Begleiterscheinungen sind Wachstumsverzögerung, Gelenkkontrakturen, Teleangiektasien, Hypogonadismus (mit fehlender Brustentwicklung bei Frauen), Kryptorchismus, Skelettmuskelatrophie, Hypertriglycämie und Diabetes mellitus/Insulinresistenz."},"es":{"name":"Síndrome de hipoplasia mandibular-sordera-rasgos progeroides-lipodistrofia","synonyms":["Síndrome MDP","Síndrome MDPL","Síndrome progeroide de hipoplasia mandibular-hipoacusia"],"definition":"Es una enfermedad de envejecimiento prematuro, genética y poco frecuente, caracterizada por sordera neurosensorial, ausencia generalizada de tejido adiposo subcutáneo (aunque con un aumento de la deposición troncal) que se observa desde la infancia, así como esclerodermia y dismorfia facial que incluye ojos prominentes, nariz picuda, boca pequeña, dientes apiñados e hipoplasia mandibular. Otras características asociadas incluyen retraso del crecimiento, contracturas articulares, telangiectasia, hipogonadismo (con ausencia de desarrollo mamario en las mujeres), criptorquidia, atrofia del músculo esquelético, hipertriglicemia y diabetes mellitus insulino resistente."},"it":{"name":"Sindrome progeroide con ipoplasia mandibolare e sordità","synonyms":["Sindrome MDP"],"definition":"La sindrome progeroide con ipoplasia mandibolare e sordità è una malattia genetica rara da invecchiamento precoce, caratterizzata da sordità neurosensoriale, carenza generalizzata del tessuto adiposo sottocutaneo (con aumento dei depositi a livello del tronco) ad esordio infantile, sclerodermia e dismorfismi facciali (occhi prominenti, naso a becco, bocca piccola, denti affastellati, ipoplasia mandibolare). Altri segni clinici sono il ritardo della crescita, le contratture articolari, la telangectasia, l'ipogonadismo (in assenza di sviluppo delle mammelle nelle femmine), il criptorchidismo, l'atrofia dei muscoli scheletrici, l'ipertrigliceridemia e il diabete mellito/l'insulino-resistenza."},"nl":{"name":"Mandibulaire hypoplasie - doofheid - progeroïde kenmerken - lipodystrofie-syndroom","synonyms":["MDP-syndroom","MDPL-syndroom","Mandibulaire hypoplasie - gehoorverlies - progeroïd-syndroom"],"definition":"Een zeldzame, genetische premature verouderingsziekte, gekenmerkt door sensorineurale doofheid, gegeneraliseerd gebrek aan subcutaan vetweefsel (hoewel met verhoogde truncale afzetting) die wordt opgemerkt vanaf de kindertijd, sclerodermie, en faciale dysmorfie met onder meer prominente ogen, bekvormige neus, kleine mond, overlappende tanden en hypoplasie van onderkaak. Overige geassocieerde kenmerken zijn onder meer groeiachterstand, gewrichtscontracturen, teleangiëctasie, hypogonadisme (met gebrek aan borstontwikkeling bij vrouwen), cryptorchidie, atrofie van skeletspieren, hypertriglyceridemie en diabetes mellitus/insulineresistentie."},"pt":{"name":"Síndrome progeroide-surdez-hipoplasia mandibular","definition":"Doença rara, genética, de envelhecimento precoce, caracterizada por surdez neurossensorial, diminuição generalizada do tecido adiposo subcutâneo (embora com deposição aumentada na região do tronco) observada desde a infância, esclerodermia e dismorfias faciais que incluem olhos proeminentes, nariz em bico, boca pequena, dentes apinhados e hipoplasia mandibular. Outras características associadas incluem atraso estaturoponderal, contraturas articulares, telangiectasias, hipogonadismo (com ausência de desenvolvimento mamário no sexo feminino), criptorquidia, atrofia do músculo esquelético, hipertrigliceridemia e diabetes mellitus/resistência à insulina."},"pl":{"name":"Zespół hipoplazji żuchwy-głuchoty-cech progeroidalnych-lipodystrofii","synonyms":["Zespół MDP"],"definition":"Rzadki, genetycznie uwarunkowany zespół przedwczesnego starzenia, charakteryzujący się niedosłuchem zmysłowo-nerwowym, uogólnionym zanikiem podskórnej tkanki tłuszczowej obserwowanym od okresu dzieciństwa (ale z jej zwiększonym odkładaniem się w obrębie tułowia), twardziną oraz dysmorfią twarzy (wyłupiaste oczy, dziobaty nos, małe usta, stłoczone zęby, hipoplazja żuchwy). Inne powiązane objawy obejmują opóźnienie wzrostu, przykurcze stawów, teleangiektazje, hipogonadyzm (z brakiem rozwoju piersi u kobiet), wnętrostwo, zanik mięśni szkieletowych, hipertriglicerydemię oraz cukrzycę/insulinooporność."},"cs":{"name":"Progeroidní syndrom zahrnující hypoplázii mandibuly a hluchotu","synonyms":["MDP syndrom"]},"uk":{"name":"Синдром гіпоплазії нижньої щелепи-глухоти-прогероїдних ознак-ліподистрофії","synonyms":["Гіпоплазія нижньої щелепи-глухота-прогероїдний синдром","MDP-синдром","Синдром MDPL"],"definition":"A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance."},"zh":{"name":"前庭发育不全-耳聋-早衰-脂肪营养不良综合征","synonyms":["下颌骨发育不全-听力损失-类早老综合征"],"definition":"下颌发育不全-耳聋-孕激素综合征是一种罕见的遗传性过早衰老疾病，其特征是感觉神经性耳聋，从小就有广泛的皮下脂肪组织缺乏(尽管患者躯干沉积增多)，硬皮病，以及面部畸形，包括突出的眼睛、喙鼻、小嘴、拥挤的牙齿和下颌发育不良。其他相关特征包括生长延迟、关节挛缩、毛细血管扩张、性腺功能减退(女性乳房发育不足)、隐睾、骨骼肌萎缩、高甘油三酯血症以及糖尿病/胰岛素抵抗。"},"tr":{"name":"Mandibular hipoplazi-sağırlık-progeroid özellikler-lipodistrofi sendromu","synonyms":["MDP sendromu","MDPL sendromu","Mandibular hipoplazi-işitme kayıp-progeroid sendrom"]}},"xrefs":[{"source":"OMIM","code":"615381","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014157","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14157","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3715192","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10989","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98305,"name":"Genetic lipodystrophy","classifications":[156,187,193]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":79389,"name":"Premature aging","classifications":[156,187]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"POLD1","name":"DNA polymerase delta 1, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23770608[PMID]","hgnc":"9175","ensembl":"ENSG00000062822","omim":"174761","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"28521875[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28521875[PMID]"}],"phenotypes":null}