{"orpha":3163,"name":"SHORT syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Lipodystrophy-Rieger anomaly-diabetes syndrome","Rieger anomaly-partial lipodystrophy syndrome"],"definition":"A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3163/","orphanet_url":"https://www.orpha.net/en/disease/detail/3163","names":{"fr":{"name":"Syndrome SHORT","synonyms":["Syndrome d'anomalie de Rieger-lipodystrophie partielle","Syndrome de lipodystrophie-anomalie de Rieger-diabète"],"definition":"Maladie rare caractérisée par de multiples anomalies congénitales. Le nom est un acronyme désignant les caractéristiques communément observées dans le syndrome SHORT, à savoir une petite taille [short stature (S)], une hyperlaxité articulaire [hyperextensibility of joints (H)], des yeux situés profondément dans l'orbite [ocular depression (O)], une anomalie de Rieger (R), et un retard à l'éruption des dents [teething delay (T)]. Les autres manifestations courantes du syndrome SHORT sont un léger retard de croissance intra-utérin, une lipodystrophie partielle, un retard de l'âge osseux, des hernies et une expression faciale caractéristique."},"de":{"name":"SHORT-Syndrom","synonyms":["Lipodystrophie-Rieger-Anomalie-Diabetes-Syndrom","Rieger-Anomalie-partielle Lipodystrophy-Syndrom"],"definition":"Eine seltene Störung, die durch multiple kongenitale Anomalien gekennzeichnet ist. 'SHORT' ist ein Akronym und steht für '<b>s</b>hort stature' (Minderwuchs), <b>h</b>yperextensible (überstreckbare) Gelenke oder Leisten<b>h</b>ernien oder beides, '<b>o</b>cular depression' (tiefliegende Augen), <b>R</b>ieger-Anomalie, und verspätetes '<b>t</b>eething' (Zahndurchbruch). Weitere häufige Erscheinungsformen des SHORT-Syndroms sind leichte intrauterine Wachstumsstörungen, partielle Lipodystrophie, verzögertes Knochenalter, Hernien und eine charakteristische Gesichtsform."},"es":{"name":"Síndrome SHORT","synonyms":["Síndrome de anomalía de Rieger-lipodistrofia parcial","Síndrome de lipodistrofia-anomalía de Rieger-diabetes"],"definition":"Es un trastorno hereditario poco frecuente por múltiples anomalías congénitas. Su nombre es un acrónimo que hace referencia a: Talla baja (Short sature en inglés), Hiperextensibilidad de las articulaciones, depresión Ocular, anomalía de Rieger y retraso de la dentición (del inglés ''Teething delay''). Otras manifestaciones comunes del síndrome SHORT son leve restricción del crecimiento intrauterino, lipodistrofia parcial, edad ósea retrasada, hernias y una apariencia facial característica."},"it":{"name":"Sindrome SHORT","synonyms":["Lipodistrofia - anomalia di Rieger - diabete","Sindrome di Aarskog-Ose-Pande"],"definition":"Si tratta di una malattia rara caratterizzata da anomalie congenite multiple, che viene definita con l'acronimo inglese dei segni clinici più comuni che la contraddistinguono, ovvero la bassa statura, l'iperestensibilità delle articolazioni, gli occhi infossati, l'anomalia di Rieger e il ritardo della dentizione. Altri segni clinici comuni sono il lieve ritardo della crescita prenatale, la lipodistrofia parziale, il ritardo dell'età ossea, le ernie e la facies caratteristica."},"nl":{"name":"SHORT-syndroom","synonyms":["Lipodystrofie - Rieger-anomalie - diabetes-syndroom","Rieger-anomalie - partiële lipodystrofie-syndroom"],"definition":"Een zeldzame stoornis gekarakteriseerd door multipele congenitale anomalieën. De naam verwijst naar de gangbare (Engelstalige) kenmerken die worden waargenomen bij SHORT-syndroom, zijnde kleine gestalte, hyperextensibiliteit van de gewrichten, oculaire depressie, Riegeranomalie en vertraagde tanderuptie. Andere gangbare manifestaties van SHORT-syndroom zijn milde intra-uteriene groeirestrictie, partiële lipodystrofie, vertraagde botmaturatie, hernia's en een herkenbare gelaatsvorm."},"pt":{"name":"Síndrome SHORT","synonyms":["Síndrome de anomalia de Reiger-lipodistrofia parcial","Síndrome de lipodistrofia-anomalia de Reiger-diabetes"]},"pl":{"name":"Zespół SHORT","synonyms":["Anomalia Riegera - częściowa lipodystrofia","Lipodystrofia - anomalia Riegera - cukrzyca","Zespół Aarskoga,Osego i Pande"]},"cs":{"name":"SHORT syndrom","synonyms":["Syndrom zahrnující lipodystrofii, Riegerovu anomálii a diabetes","Syndrom zahrnující Riegerovu anomálii a parciální lipodystrofii","Aarskogův-Oseův-Pandeové syndrom","Aarskog-Ose-Pandeové syndrom"]},"uk":{"name":"Синдром SHORT","synonyms":["Синдром ліподистрофії - аномалії Рігера - цукрового діабету","Синдром аномалії Рігера - часткова ліподистрофія"],"definition":"A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt."},"zh":{"name":"SHORT综合征","synonyms":["脂肪营养不良-Rieger异常-糖尿病综合征"]},"tr":{"name":"SHORT sendromu","synonyms":["Rieger anomalisi-kısmi lipodistrofi sendromu","Lipodistrofi-Rieger anomalisi-diyabet sendromu"]}},"xrefs":[{"source":"OMIM","code":"269880","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.6Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1264512044"},{"source":"MONDO","code":"0010026","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537327","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0878684","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7633","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090250","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","classifications":[147,156,189]},{"orpha":98305,"name":"Genetic lipodystrophy","classifications":[156,187,193]},{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]},{"orpha":181368,"name":"Rare insulin-resistance syndrome","classifications":[156,193]},{"orpha":98622,"name":"Syndromic hyperopia","classifications":[156,189]}],"children":[],"genes":[{"symbol":"PIK3R1","name":"phosphoinositide-3-kinase regulatory subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23810378[PMID]_23810379[PMID]_23810382[PMID]","hgnc":"8979","ensembl":"ENSG00000145675","omim":"171833","loci":["5q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":32.0,"area":"Worldwide","status":"Validated","source":"26497935[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26497935[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-18","source":null,"terms":[{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007676","label":"Hypoplasia of the iris","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007392","label":"Excessive wrinkled skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000593","label":"Abnormal anterior chamber morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010668","label":"Abnormal zygomatic bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000277","label":"Abnormality of the mandible","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000627","label":"Posterior embryotoxon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}