{"orpha":2863,"name":"Short stature-wormian bones-dextrocardia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Stratton-Parker syndrome"],"definition":"A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2863/","orphanet_url":"https://www.orpha.net/en/disease/detail/2863","names":{"fr":{"name":"Syndrome de petite taille-os wormiens-dextrocardie","synonyms":["Syndrome de Stratton-Parker"],"definition":"Le syndrome de petite taille-os wormiens-dextrocardie est un syndrome d'anomalies congénitales multiples caractérisé par des os wormiens, une dextrocardie et une petite taille dus à un déficit en hormone de croissance. Les manifestations additionnelles incluent une brachycamptodactylie, une hypoplasie rénale, une cryptorchidie bilatérale, un hypospadias de type « midshaft », une agénésie anorectale/imperforation de l'anus, une asymétrie corporelle, un léger retard de développement, une hémi-mégalencéphalie et une dysmorphie faciale (hypotélorisme, fentes palpébrales obliques en bas en en dehors, oreilles basses implantées en arrière, dépression de la racine nasale et microstomie)."},"de":{"name":"Kleinwuchs-Wormsche Knochen-Dextrokardie-Syndrom","synonyms":["Stratton-Parker-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien, das durch Wormsche Knochen, Dextrokardie und Kleinwuchs aufgrund eines Wachstumshormonmangels gekennzeichnet ist. Zusätzliche Manifestationen, über die berichtet wurde, sind Brachykamptodaktylie, Nierenhypoplasie, bilateraler Kryptorchismus, Hypospadie in der Mitte des Schafts, imperforierter Anus/anorektale Agenesie, Körperasymmetrie, leichte Entwicklungsverzögerung, Hemimegalenzephalie und Gesichtsdysmorphie (Hypotelorismus, nach unten geneigte Lidspalten, tief angesetzte und nach hinten abgewinkelte Ohren, abgesenkter Nasenrücken und Mikrostomie)."},"es":{"name":"Síndrome de talla baja-huesos wormianos-dextrocardia","synonyms":["Síndrome de Stratton-Parker"],"definition":"Es un síndrome por anomalías congénitas múltiples caracterizado por huesos wormianos, dextrocardia y talla baja debido a una deficiencia de la hormona del crecimiento. Otras manifestaciones adicionales descritas incluyen braquicamptodactilia, hipoplasia del riñón, criptorquidia bilateral, hipospadias en la mitad del tallo, ano imperforado/ agenesia anorrectal, asimetría corporal, retraso leve del desarrollo, hemimegalencefalia y dismorfia facial (hipotelorismo, fisuras palpebrales inclinadas hacia abajo, orejas de implantación baja y rotadas posteriormente, puente nasal deprimido y microstomia)."},"it":{"name":"Bassa statura - ossa wormiane - destrocardia","synonyms":["Sindrome di Stratton-Parker"],"definition":"La bassa statura associata a ossa wormiane e destrocardia è una malattia da anomalie congenite multiple, caratterizzata da ossa wormiane, destrocardia e bassa statura secondaria a deficit dell'ormone della crescita. Altri segni descritti sono la brachi-camptodattilia, l'ipoplasia renale, il criptorchidismo bilaterale, l'ipospadia media, l'ano imperforato/agenesia anorettale, l'asimmetria del corpo, il lieve ritardo dello sviluppo, l'emimegalencefalia e i dismorfismi facciali (ipotelorismo, rime palpebrali oblique verso il basso, orecchie a basso impianto e retro-ruotate, sella nasale infossata e microstomia)."},"nl":{"name":"Kleine gestalte - Wormiaanse botstructuren - dextrocardie-syndroom","synonyms":["Syndroom van Stratton-Parker"],"definition":"Een syndroom met multipele congenitale anomalieën, gekarakteriseerd door Wormiaanse botstructuren (os suturale), dextrocardie en kleine gestalte als gevolg van deficiëntie van een groeihormoon. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer brachycamptodactylie, hypoplasie van nier, bilateraal cryptorchisme, schacht-hypospadieën, anusatresie/anorectale agenesie, lichaamsasymmetrie, milde ontwikkelingsachterstand, hemimegalencefalie en faciale dysmorfie (hypotelorisme, naar beneden hellende ooglidspleten, laag geplaatste en naar achter gedraaide oren, ingezakte neusbrug, en microstomie)."},"pt":{"name":"Síndrome de baixa estatura-ossos vormianos-dextrocardia","synonyms":["Síndrome Stratton-Parker"]},"pl":{"name":"Niski wzrost - kostki Worma - dekstrokardia","synonyms":["Zespół Strattona i Parkera"]},"cs":{"name":"Syndrom zahrnující malý vzrůst, wormianské kůstky a dextrokardii","synonyms":["Strattonův-Parkerův syndrom","Stratton-Parkerův syndrom"]},"uk":{"name":"Синдром низькорослості- червоподібних кісток - декстрокардії","synonyms":["Синдром Страттона-Паркера"],"definition":"A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia)."},"zh":{"name":"身材矮小-缝间骨-右位心综合征","synonyms":["Stratton-Parker综合征"]},"tr":{"name":"Kısa boy-wormian kemikler-dekstrokardi sendromu","synonyms":["Stratton-Parker sendromu"]}},"xrefs":[{"source":"OMIM","code":"185120","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008499","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566105","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861448","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4856","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"15211658[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15211658[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000288","label":"Abnormality of the philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000187","label":"Broad alveolar ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000437","label":"Depressed nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","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:0000527","label":"Long eyelashes","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:0012854","label":"Midshaft hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Very frequent (99-80%)","criteria":null}]}}