{"orpha":1858,"name":"Skeletal dysplasia-epilepsy-short stature syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Gurrieri-Sammito-Bellussi syndrome"],"definition":"A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalized hypotonia and hyper extensible joints.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1858/","orphanet_url":"https://www.orpha.net/en/disease/detail/1858","names":{"fr":{"name":"Syndrome de dysplasie squelettique-épilepsie-petite taille","synonyms":["Syndrome de Gurrieri-Sammito-Bellussi"],"definition":"Dysostose rare d'origine génétique caractérisée par une dysplasie squelettique (ailes iliaques de forme conique, âge osseux retardé, anomalies des corps vertébraux et schisis des arcs vertébraux), des convulsions, une petite taille, une atrophie cérébrale et une déficience intellectuelle modérée à sévère. Parmi d'autres manifestations possibles figurent des anomalies de la cornée et de la rétine, la cataracte, le prognathisme, la malocclusion dentaire, la brachydactylie, la clinodactilie, une légère hypotonie généralisée et une hyperlaxité articulaire."},"de":{"name":"Skelettdysplasie-Epilepsie-Kleinwuchs-Syndrom","synonyms":["Gurrieri-Sammito-Bellussi-Syndrom"],"definition":"Ein genetisch bedingtes Dysostose-Syndrom, das durch Skelettdysplasie (kaninchenohrförmige Beckenflügel, verzögertes Knochenwachstum, Anomalien der Wirbelkörper und Spaltung der Wirbelbögen), Krampfanfälle, Kleinwuchs, Hirnatrophie und mittelschwere bis schwere Intelligenzminderung gekennzeichnet ist. Weitere variable Manifestationen sind Hornhaut- und Netzhautanomalien, Katarakt, Progenie, Zahnfehlstellungen, Brachydaktylie, Klinodaktylie, leichte generalisierte Hypotonie und überstreckbare Gelenke."},"es":{"name":"Síndrome de displasia esquelética-epilepsia-talla baja","synonyms":["Síndrome de Gurrieri-Sammito-Bellussi"],"definition":"Es un síndrome malformativo de disostosis de origen genético y poco frecuente caracterizado por displasia esquelética (alas ilíacas en forma de orejas de conejo, retraso en la edad ósea, cuerpos vertebrales anómalos y esquisis de los arcos vertebrales), crisis epilépticas, talla baja, atrofia cerebral y discapacidad intelectual de moderada a grave. Otras manifestaciones variables adicionales incluyen anomalías corneales y retinianas, cataratas, prognatismo, maloclusión dental, braquidactilia, clinodactilia, hipotonía generalizada leve y articulaciones hiperextensibles."},"it":{"name":"Sindrome displasia scheletrica-epilessia-bassa statura","synonyms":["Sindrome di Gurrieri-Sammito-Bellussi"],"definition":"Si tratta di una disostosi genetica rara, caratterizzata da displasia scheletrica (ali iliache a forma di orecchie di coniglio, ritardo dell'età ossea, anomalie dei corpi vertebrali e schisi degli archi vertebrali), crisi epilettiche, bassa statura, atrofia cerebrale e disabilità intellettiva moderata-grave. I pazienti possono presentare anche anomalie della cornea e della retina, cataratta, prognatismo, malocclusione dentale, brachidattilia, clinodattilia, ipotonia lieve generalizzata e articolazioni iperestensibili."},"nl":{"name":"Skeletdysplasie - epilepsie - kleine gestalte-syndroom","synonyms":["Syndroom van Gurrieri-Sammito-Bellussi"],"definition":"Een zeldzaam, genetisch dysostose malformatiesyndroom, gekarakteriseerd door skeletdysplasie (konijnoorvormige darmbeenvleugels, vertraagde botmaturatie, afwijkingen van wervellichamen, en schisis van wervelbogen), insulten, kleine gestalte, cerebrale atrofie, en matige tot ernstige intellectuele beperking. Bijkomende variabele manifestaties zijn onder meer afwijkingen van cornea en retina, cataract, prognathie, dentale malocclusie, brachydactylie, clinodactylie, lichte gegeneraliseerde hypotonie, en gewrichtshypermobiliteit."},"pt":{"name":"Síndrome de displasia esquelética-epilepsia-baixa estatura","synonyms":["Síndrome Gurrieri-Sammito-Bellussi"]},"pl":{"name":"Dysplazja szkieletowa- padaczka - niski wzrost","synonyms":["Zespół Gurrieri, Sammito i Bellussi"]},"cs":{"name":"Syndrom zahrnující kosterní dysplázii, epilepsii a nízký vzrůst","synonyms":["Gurrieriho-Sammitův-Bellussiho syndrom","Gurrieri-Sammito-Bellussiho syndrom"]},"uk":{"name":"Синдром скелетної дисплазії-епілепсії-низького зросту","synonyms":["Синдром Гурєрі-Самміто-Беллуссі"],"definition":"A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactily, slight generalized hypotonia and hyper extensible joints."},"zh":{"name":"骨骼发育不良-癫痫-身材矮小综合征","synonyms":["Gurrieri-Sammito-Bellussi综合征"]},"tr":{"name":"İskelet displazisi-epilepsi-kısa boy sendromu","synonyms":["Gurrieri-Sammito-Bellussi sendromu"]}},"xrefs":[{"source":"OMIM","code":"601187","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"817582776"},{"source":"MONDO","code":"0011011","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537625","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796046","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"350","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"9916849[PMID]_1488978[PMID]_8882779[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9916849[PMID]_1488978[PMID]_8882779[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002866","label":"Hypoplastic iliac wing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null}]}}