{"orpha":314585,"name":"15q overgrowth syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314585/","orphanet_url":"https://www.orpha.net/en/disease/detail/314585","names":{"fr":{"name":"Gigantisme 15q","definition":"Trisomie/tétrasomie partielle rare des autosomes caractérisée par une dysmorphie faciale (visage long et fin, front proéminent, fentes palpébrales inclinées vers le bas, nez proéminent avec un pont nasal large, menton proéminent), une croissance prénatale et postnatale excessive, des anomalies rénales (par exemple, rein en fer à cheval, agénésie rénale, hydronéphrose), des difficultés d'apprentissage légères à sévères et des troubles comportementaux. Une craniosynostose et une macrocéphalie sont d'autres caractéristiques possibles."},"de":{"name":"15q-Großwuchs-Syndrom"},"es":{"name":"Síndrome de sobrecrecimiento 15q","definition":"Es una anomalía cromosómica poco frecuente, consistente en una trisomía/tetrasomía parcial, caracterizada por dismorfia facial (rostro delgado y alargado, frente prominente, fisuras palpebrales inclinadas hacia abajo, nariz prominente con puente nasal ancho, mentón prominente), hipercrecimiento pre- y postnatal, anomalías renales (p. ej., riñón en herradura, agenesia renal, hidronefrosis), dificultades en el aprendizaje, así como trastornos de conducta. Otros hallazgos adicionales pueden incluir craneosinostosis y macrocefalia."},"it":{"name":"Sindrome da iperaccrescimento 15q","definition":"La sindrome da iperaccrescimento 15q è una trisomia/tetrasomia autosomica parziale rara, caratterizzata da dismorfismi facciali (viso allungato ed assottigliato, fronte prominente, rime palpebrali oblique verso il basso, naso prominente con sella ampia, mento prominente), iperaccrescimento pre- e postnatale, anomalie renali (reni a ferro di cavallo, agenesia renale, idronefrosi), difficoltà di apprendimento lievi-gravi ed anomalie del comportamento. Altri segni clinici sono la craniosinostosi e la macrocefalia."},"nl":{"name":"15q-overgroeisyndroom","definition":"Een zeldzame, partiële, autosomale trisomie/tetrasomie, gekarakteriseerd door faciale dysmorfie (lang en dun gelaat, prominent voorhoofd, schuin naar beneden hellende ooglidspleten, prominente neus met brede neusbrug, prominente kin), pre- en postnatale overgroei, nieranomalieën (e.g. hoefijzernieren, agenesie van nier, hydronefrose), milde tot ernstige leermoeilijkheden, en gedragsanomalieën. Mogelijke bijkomende kenmerken zijn onder meer craniosynostose en macrocefalie.."},"pt":{"name":"Síndrome de sobrecrescimento 15q"},"pl":{"name":"Zespół nadmiernego wzrostu 15q","definition":"*Zespół nadmiernego wzrostu 15q to rzadka częściowa trisomia /tetrasomia autosomu, która charakteryzuje się dysmorfią twarzy (długa szczupła twarz, wydatne czoło, skierowane skośnie ku dołowi szpary powiekowe, wydatny nos z szerokim grzbietem, wydatna broda), nadmierny wzrost przed- i pourodzeniowy, wady nerek (np. nerka podkowiasta, agenezja nerek, wodonercze), łagodne do ciężkich trudności w nauce i zaburzenia zachowania. Dodatkowe może wystąpić kraniosynostoza i wielkogłowie."},"cs":{"name":"Syndrom nadměrného vzrůstu vázaný na 15q"},"uk":{"name":"Синдром надмірного росту 15q","definition":"A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly."},"zh":{"name":"15q生长过度综合征","definition":"一种罕见的部分常染色体三体/四体畸形，其特征是面部畸形（脸瘦长，前额突出，睑裂下斜，鼻子突出，鼻梁宽，下巴突出），产前和产后的过度生长，肾脏异常（如马蹄肾，肾发育不全，肾积水），轻到重度学习困难和行为异常。其他特征可能包括颅骨早闭和巨颅畸形。"},"tr":{"name":"15q aşırı büyüme sendromu"}},"xrefs":[{"source":"OMIM","code":"614846","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017806","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749920","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":93461,"name":"Chromosomal disease with overgrowth","classifications":[147,156]},{"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":262950,"name":"Partial duplication of the long arm of chromosome 15 syndrome","classifications":[147,156]}],"children":[{"orpha":1707,"name":"Distal duplication 15q syndrome","type":"Etiological subtype"},{"orpha":314588,"name":"Distal triplication 15q syndrome","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"19133692[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-09-23","source":"22653535[PMID]_22711292[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007642","label":"Congenital stationary night blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009540","label":"Contracture of the proximal interphalangeal joint of the 2nd finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009471","label":"Contracture of the proximal interphalangeal joint of the 3rd finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001548","label":"Overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008714","label":"Ureterovesical stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006143","label":"Abnormal finger flexion creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008519","label":"Abnormality of the coccyx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010653","label":"Abnormality of the falx cerebri","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000676","label":"Abnormality of the incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001623","label":"Breech presentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}