{"orpha":935,"name":"Short-limb skeletal dysplasia with severe combined immunodeficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Achondroplasia-SCID syndrome","Achondroplasia-Swiss type agammaglobulinemia syndrome","Achondroplasia-severe combined immunodeficiency syndrome","Immunodeficiency-short limb dwarfism syndrome","Short limb skeletal dysplasia with SCID"],"definition":"An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-935/","orphanet_url":"https://www.orpha.net/en/disease/detail/935","names":{"fr":{"name":"Syndrome de dysplasie osseuse à membres courts-déficit immunitaire combiné sévère","synonyms":["Syndrome d'achondroplasie-DICS","Syndrome d'achondroplasie-IDCS","Syndrome d'achondroplasie-SCID","Syndrome d'achondroplasie-agammaglobulinémie type suisse","Syndrome d'achondroplasie-déficit immunitaire combiné sévère","Syndrome d'achondroplasie-immunodéficience combinée sévère","Syndrome de dysplasie osseuse à membres courts-DICS","Syndrome de dysplasie osseuse à membres courts-IDCS","Syndrome de dysplasie osseuse à membres courts-SCID","Syndrome de dysplasie osseuse à membres courts-immunodéficience combinée sévère","Syndrome de déficit immunitaire-nanisme à membres courts"],"definition":"Type extrêmement rare d'immunodéficience combinée sévère (SCID) caractérisé par les signes classiques de la SCID T-B (infections sévères et récurrentes, diarrhée, retard de croissance staturo-pondéral, absence de lymphocytes T et B), associé à des anomalies squelettiques telles qu'une petite taille, une courbure des os longs et des anomalies métaphysaires avec un degré de sévérité variable."},"de":{"name":"Skelettdysplasie mit verkürzten Extremitäten und schwerem kombinierten Immundefekt","synonyms":["Achondroplasie mit Agammaglobulinämie vom Schweizer Typ","Achondroplasie-SCID-Syndrom","Achondroplasie-schwerer kombinierter Immundefekt-Syndrom","Skelettdysplasie mit verkürzten Extremitäten und SCID"],"definition":"Eine extrem seltene Form des schweren kombinierten Immundefekts (SCID), die durch die klassischen Anzeichen des T-B-SCID (schwere und wiederkehrende Infektionen, Durchfall, Gedeihstörung, Fehlen von T- und B-Lymphozyten) gekennzeichnet ist und mit Skelettanomalien wie Kleinwuchs, Verkrümmung der Röhrenknochen und metaphysären Anomalien unterschiedlichen Schweregrades einhergeht."},"es":{"name":"Displasia esquelética de las extremidades cortas con inmunodeficiencia combinada grave","synonyms":["Displasia esquelética de extremidades cortas con IDCG","Displasia esquelética de extremidades cortas con SCID","Síndrome de acondroplasia-IDCG","Síndrome de acondroplasia-SCID","Síndrome de acondroplasia-agammaglobulinemia tipo suizo","Síndrome de acondroplasia-inmunodeficiencia combinada grave","Síndrome de inmunodeficiencia-enanismo de extremidades cortas"],"definition":"Es un tipo extremadamente infrecuente de inmunodeficiencia combinada grave (IDCG) que se caracteriza por los signos clásicos de la IDCG T-B (infecciones graves y recurrentes, diarrea, fallo de medro, ausencia de linfocitos T y B), asociados a anomalías esqueléticas como tall baja, incurvación de los huesos largos y anomalías metafisarias de grado variable."},"it":{"name":"Displasia scheletrica con arti corti e immunodeficienza combinata grave","synonyms":["Displasia scheletrica ad arti corti con SCID","Sindrome acondroplasia-SCID","Sindrome acondroplasia-agammaglobulinemia tipo svizzero","Sindrome acondroplasia-immunodeficienza combinata grave","Sindrome immunodeficienza-nanismo con arti corti"]},"nl":{"name":"Skeletdysplasie met korte ledematen en met ernstige gecombineerde immuundeficiëntie","synonyms":["Achondroplasie - SCID-syndroom","Achondroplasie - Zwitsers type agammaglobulinemie-syndroom","Achondroplasie - ernstige gecombineerde immuundeficiëntie-syndroom","Immuundeficiëntie - dwerggroei met korte ledematen-syndroom"],"definition":"Skeletale dysplasie met korte ledematen en met ernstige gecombineerde immuundeficiëntie is een extreem zeldzame vorm van SCID (zie deze term) die wordt gekarakteriseerd door de klassieke kenmerken van T-B- SCID (ernstige en terugkerende infecties, diarree, groeiachterstand, afwezigheid van T- en B-lymfocyten) (zie deze term), en is geassocieerd met afwijkingen van het skelet zoals een kleine gestalte, buiging van de pijpbeenderen en abnormaliteiten van uiteenlopende ernst aan de metafysen."},"pt":{"name":"Displasia esquelética de membros curtos com imunodeficiência combinada grave","synonyms":["Displasia esquelética de membros curtos com SCID","Síndrome de acondroplasia-SCID","Síndrome de acondroplasia-agamaglobulinemia tipo Suíço","Síndrome de acondroplasia-imunodeficiência combinada grave","Síndrome de imunodeficiência-nanismo de membros curtos"]},"pl":{"name":"Dysplazja szkieletowa krótkich kończyn z ciężkim złożonym niedoborem odporności","synonyms":["Dysplazja szkieletowa krótkich kończyn z SCID","Zespół achondroplazji i agammaglobulinemii typu szwajcarskiego","Zespół achondroplazji i ciężkiego złożonego niedoboru odporności","Zespół achondroplazji i SCID","Zespół niedoboru odporności i niskorosłości krótkokończynowej"]},"cs":{"name":"Skeletální dysplázie končetin s těžkou kombinovanou imunodeficiencí","synonyms":["Syndrom zahrnující achondroplázii a SCID","Syndrom zahrnující achondroplázii a švýcarský typ agamaglobulinémie","Syndrom zahrnující achondroplázii a těžkou kombinovanou imunodeficienci","Syndrom zahrnující imunodeficienci a trpaslictví s krátkými končetinami","Skeletální dysplázie s krátkými končetinami a SCID"]},"uk":{"name":"Дисплазія скелету з вкороченням кінцівок та важким комбінованим імунодефіцитом","synonyms":["Синдром ахондроплазії-ТКІД","Ахондроплазія - синдром тяжкого комбінованого імунодефіциту","Синдром агаммаглобулінемії швейцарського типу при ахондроплазії","Синдром імунодефіцитної карликовості з короткими кінцівками","Дисплазія скелета коротких кінцівок з SCID"],"definition":"An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity."},"zh":{"name":"短肢骨骼发育不良伴严重联合免疫缺陷","synonyms":["软骨发育不全-Swiss型无丙种球蛋白血症综合征"]},"tr":{"name":"Ağır kombine immun yetmezliği olan kısa ekstremite iskelet displazisi","synonyms":["Akondroplazi-SCID sendromu","SCID ile kısa ekstremite iskelet displazisi","İmmün yetmezlik-kısa ekstremite cücelik sendromu","Akondroplazi-İsviçre tipi agamaglobulinemi sendromu","Akondroplazi-ağır kombine immün yetmezlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"200900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A01.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"469016488"},{"source":"MONDO","code":"0008704","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565984","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860168","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2988","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":317419,"name":"T-B- severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"1999827[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1999827[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005374","label":"Cellular immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004430","label":"Severe combined immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004432","label":"Agammaglobulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003085","label":"Long fibula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011364","label":"White hair","frequency":"Occasional (29-5%)","criteria":null}]}}