{"orpha":1001,"name":"2q37 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Albright hereditary osteodystrophy type 3","Albright hereditary osteodystrophy-like syndrome","Brachydactyly-intellectual disability syndrome","Del(2)(q37)","Deletion 2q37","Monosomy 2q37qter"],"definition":"A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1001/","orphanet_url":"https://www.orpha.net/en/disease/detail/1001","names":{"fr":{"name":"Syndrome de microdélétion 2q37","synonyms":["Del(2)(q37)","Délétion 2q37","Monosomie 2q37qter","Ostéodystrophie héréditaire d'Albright type 3","Syndrome de brachydactylie-déficience intellectuelle"],"definition":"Anomalie chromosomique rare consistant en la délétion de la bande chromosomique 2q37 qui se caractérise par de nombreux signes cliniques et notamment : retard de développement léger à modéré ou déficience intellectuelle, brachymétaphalangie des doigts 3 à 5, petite taille, obésité, hypotonie, dysmorphie faciale caractéristique, comportement anormal, autisme ou troubles du spectre autistique, hypermobilité ou luxation articulaire et scoliose."},"de":{"name":"Mikrodeletionssyndrom 2q37","synonyms":["Albright-Osteodystrophie, hereditäre, Typ 3","Albright-Osteodystrophie-ähnliches Syndrom","Brachydaktylie-Intelligenzminderung-Syndrom","Del(2)(q37)","Deletion 2q37","Monosomie 2q37qter"],"definition":"Eine seltene Chromosomenanomalie mit Deletion der Chromosomenbande 2q37, die durch ein breites Spektrum klinischer Befunde gekennzeichnet ist, darunter eine leichte bis mittlere Entwicklungsverzögerung/Intelligenzminderung, Brachymetaphalangie der Finger 3 bis 5, Kleinwuchs, Adipositas, Hypotonie, spezifische Gesichtsdysmorphien, auffälliges Verhalten, Autismus oder Autismus-Spektrum-Störung, Hypermobilität/Dislokation der Gelenke und Skoliose."},"es":{"name":"Síndrome de microdeleción 2q37","synonyms":["Del(2)(q37)","Deleción 2q37","Monosomía 2q37qter","Osteodistrofia hereditaria de Albright tipo 3","Síndrome de braquidactilia-discapacidad intelectual","Síndrome de osteodistrofia hereditaria similar a Albright"],"definition":"Es una anomalía cromosómica poco frecuente que implica la deleción de la banda cromosómica 2q37 y que se caracteriza por un amplio espectro de hallazgos clínicos que incluyen retraso del desarrollo psicomotor de leve a moderado/discapacidad intelectual, braquimetafalangia de los dígitos 3-5, talla baja, obesidad, hipotonía, dismorfia facial característica, anomalías de la conducta, autismo o trastorno del espectro autista, hipermovilidad/luxación articular y escoliosis."},"it":{"name":"Sindrome da microdelezione 2q37","synonyms":["Sindrome brachidattilia-disabilità intellettiva","Del(2)(q37)","Delezione 2q37","Monosomia 2q37qter","Monosomia 2q37-qter","Osteodistrofia ereditaria di Albright, tipo 3","Osteodistrofia ereditaria di Albright tipo 3","Sindrome simile all’osteodistrofia ereditaria di Albright"],"definition":"La sindrome da microdelezione 2q37 è un'anomalia cromosomica rara che comporta la perdita della banda cromosomica 2q37. È caratterizzata da un quadro clinico molto variabile, che comprende il ritardo dello sviluppo/disabilità intellettiva lieve-moderata, la brachimetafalangia del terzo-quinto dito, la bassa statura, l'obesità, l'ipotonia, i dismorfismi facciali caratteristici, le anomalie del comportamento, l'autismo o i disturbi dello spettro autistico, l'ipermobilità/dislocazione delle articolazioni e la scoliosi."},"nl":{"name":"2q37-microdeletiesyndroom","synonyms":["Albright erfelijke osteodystrofie-achtig syndroom","Brachydactylie - intellectuele achterstand-syndroom","Del(2)(q37)","Deletie 2q37","Erfelijke osteodystrofie van Albright type 3","Monosomie 2q37qter"],"definition":"Een zeldzame chromosomale anomalie met deletie van chromosoomband 2q37, gekarakteriseerd door een breed spectrum van klinische bevindingen, waaronder milde-matige ontwikkelingsachterstand/intellectuele achterstand, brachymetafalangie van vingers/tenen 3-5, kleine gestalte, obesitas, hypotonie, specifieke faciale dysmorfie, abnormaal gedrag, autisme of autismespectrumstoornis, gewrichtshypermobiliteit/luxatie van gewricht, en scoliose."},"pt":{"name":"Síndrome de microdeleção 2q37","synonyms":["Del(2)(q37)","Deleção 2q37","Monossomia 2q37qter","Osteodistrofia hereditária Albright tipo 3","Síndrome de braquidactilia-perturbação do desenvolvimento intelectual","Síndrome de osteodistrofia-like hereditária Albright"],"definition":"A delecção 2q37 ou a monossomia 2q37 é uma anomalia cromossómica envolvendo a delecção do local cromossómico 2q37 e manifesta-se com três achados clínicos principais: atraso no desenvolvimento, malformações esqueléticas e dismorfismo facial."},"pl":{"name":"Zespół mikrodelecji 2q37","synonyms":["Brachydaktylia-niepełnosprawność intelektualna","Del(2)(q37)","Delecja 2q37","Delecja 2q37-qter","Dziedziczna osteodystrofia Albrighta 3","Monosomia 2q37-qter","Zespół podobny do dziedzicznej osteodystrofii Albrighta","Del(2)(q37)","Delecja 2q37","Delecja 2q37-qter","Monosomia 2q37-qter","Dziedziczna osteodystrofia Albrighta typu 3","Zespół brachydaktylii i niepełnosprawności intelektualnej","Zespół podobny do dziedzicznej osteodystrofii Albrighta"]},"cs":{"name":"Mikrodeleční syndrom 2q37","synonyms":["Albrightova hereditární osteodystrofie, typ III","Brachydaktylie a mentální retardace","Del(2)(q37)","Delece 2q37","Delece 2q37-qter","Monozomie 2q37-qter","Syndrom podobný Albrightově hereditární osteodystrofii"]},"uk":{"name":"Синдром мікроделеції 2q37","synonyms":["Спадкова остеодистрофія Олбрайта, тип 3","Спадковий остеодистрофічний синдром Олбрайта","Синдром брахідактилії - інтелектуальної недостатності","Del(2)(q37)","Делеція 2q37","Моносомія 2q37qter"],"definition":"A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis."},"zh":{"name":"2q37微缺失综合征","synonyms":["Albright遗传性骨营养不良样综合征"]},"tr":{"name":"2q37 mikrodelesyon sendromu","synonyms":["Del (2) (q37)","Delesyon 2q37","Monzomi 2q37qter","Albright kalıtsal osteodistrofi tip 3","Brakidaktili-zihinsel yetersizlik sendromu","Albright kalıtsal osteodistrofi benzeri sendrom"]}},"xrefs":[{"source":"OMIM","code":"600430","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1167208445"},{"source":"MONDO","code":"0010886","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538317","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931817","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10202","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":262010,"name":"Partial deletion of the long arm of chromosome 2 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"HDAC4","name":"histone deacetylase 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20691407[PMID]_23188045[PMID]","hgnc":"14063","ensembl":"ENSG00000068024","omim":"605314","loci":["2q37.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":115.0,"area":"Worldwide","status":"Validated","source":"36833393[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"36833393[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010761","label":"Broad columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Occasional (29-5%)","criteria":null}]}}