{"orpha":498485,"name":"Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-498485/","orphanet_url":"https://www.orpha.net/en/disease/detail/498485","names":{"fr":{"name":"Syndrome de croissance excessive-modelage métaphysaire réduit-dysplasie spondylaire","definition":"Syndrome rare de croissance excessive ou grande taille avec atteinte osseuse caractérisé par une croissance excessive débutant avant ou après la naissance, un âge osseux avancé pendant l'enfance et la petite enfance, une grande taille, une croissance excessive de la base du crâne, une dysplasie spondylaire et un modelage insuffisant des os tubulaires. La dysmorphie faciale inclut un hypertélorisme léger, une arête nasale déprimée, un nez court et large, et une lèvre inférieure pleine. Les autres signes cliniques rapportées sont une scoliose, ainsi qu'un retard de la puberté, une cryptorchidie et un hypospadias."},"de":{"name":"Großwuchs-metaphysäre Untermodellierung-spondyläre Dysplasie-Syndrom","definition":"Ein seltenes Grosswuchssyndrom mit Skelettbeteiligung, das durch ein prä- oder postnatales Wachstum, ein beschleunigtes Knochenalter im Säuglings- und Kleinkindalter, eine hohe Statur, eine knöcherne Überwucherung der Schädelbasis, eine spondyläre Dysplasie und eine Untermodellierung der Röhrenknochen gekennzeichnet ist. Zu den Gesichtsdysmorphien gehören ein leichter Hypertelorismus, ein vertiefter Nasenrücken, eine kurze und breite Nase sowie eine volle Unterlippe. Als weitere Merkmale werden Skoliose sowie verzögerte Pubertät, Kryptorchismus und Hypospadie berichtet."},"es":{"name":"Síndrome de sobrecrecimiento-defecto de modelado metafisario-displasia espondilar","definition":"Es un síndrome poco frecuente de sobrecrecimiento con afectación esquelética caracterizada por la aparición pre- o posnatal de sobrecrecimiento, edad ósea acelerada en la lactancia y la infancia temprana, talla alta, sobrecrecimiento óseo de la base del cráneo, displasia espondilar e inframodelado de los huesos tubulares. La dismorfia facial incluye hipertelorismo leve, puente nasal deprimido, nariz corta y ancha y labio inferior grueso. Otras características adicionales descritas son escoliosis, retraso puberal, criptorquidia e hipospadias."},"it":{"name":"Sindrome iperaccrescimento - scarso modellamento delle metafisi - displasia vertebrale","definition":"Si tratta di una malattia rara da iperaccrescimento con interessamento scheletrico, caratterizzata da iperaccrescimento pre- o postnatale, età ossea avanzata nel periodo neonatale e nella prima infanzia, alta statura, iperaccrescimento delle ossa della base del cranio, displasia vertebrale e scarso modellamento delle ossa tubulari. I dismorfismi facciali comprendono l'ipertelorismo lieve, la sella nasale infossata, il naso corto e largo, e il labbro inferiore grosso. I pazienti possono presentare anche scoliosi, ritardo della pubertà, criptorchidismo e ipospadia."},"nl":{"name":"Overgroei - verminderde metafysaire modellering - spondylaire dysplasie-syndroom","definition":"Een zeldzaam overgroeisyndroom met betrokkenheid van skelet, gekarakteriseerd door pre- of postnatale aanvang van overmatige groei, versnelde botleeftijd in de zuigelingentijd en vroege kindertijd, grote gestalte, benige overgroei van schedelbasis, spondylaire dysplasie, en ondermaatse modellering van pijpbeenderen. Faciale dysmorfie omvat mild hypertelorisme, ingezakte neusbrug, korte en brede neus, en volle onderlip. Bijkomende kenmerken die werden gerapporteerd zijn scoliose, alsook uitgestelde puberteit, cryptorchisme, en hypospadie."},"pt":{"name":"Síndrome de sobrecrescimento-undermodeling metafisário-displasia espondilar"},"pl":{"name":"Zespół nadmiernego wzrostu i dysplazji kręgosłupowo-przynasadowej"},"cs":{"name":"Syndrom zahrnující nadměrný růst, nedostatečnou modelací metafýz a spondylární dysplázii"},"uk":{"name":"Синдром розростання-метафізарного недомоделювання-спондилярної дисплазії","definition":"A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias."},"zh":{"name":"过度生长-干骺端发育不良-脊柱发育不良综合征"},"tr":{"name":"Aşırı büyüme-metafizer zayıf modelleme-spondiler displazi sendromu"}},"xrefs":[{"source":"OMIM","code":"608811","qualifier":"E","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},{"source":"MONDO","code":"0012131","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537355","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837316","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10066","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":498448,"name":"Overgrowth or tall stature syndrome with skeletal involvement","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"15214018[PMID]_17618504[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15214018[PMID]_17618504[PMID]"}],"phenotypes":null}