{"orpha":658805,"name":"Greig cephalopolysyndactyly-contiguous gene syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["GCP-CGS"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by polydactyly, syndactyly (pre&#8209; or post&#8209;axial polydactyly of hands and/or feet with variable cutaneous syndactyly), craniofacial features (including macrocephaly, frontal bossing, hypertelorism and broad nasal bridge)- that are similar to those observed in patients with Greig cephalopolysyndactyly syndrome-, as well as clear developmental delay, moderate to severe intellectual disability, seizures and structural brain abnormalities including agenesis/hypoplasia of the corpus callosum. Additional central nervous system anomalies may include ventriculomegaly, aqueductal stenosis and other midline defects. Patients present with larger microdeletions that encompass the <i>GLI3</i> gene and depending on the size of the deletion, additional clinical features such as hernias and hyperglycemia may be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-658805/","orphanet_url":"https://www.orpha.net/en/disease/detail/658805","names":{"fr":{"name":"Syndrome des gènes contigus de céphalopolysyndactylie de Greig","definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une polydactylie, une syndactylie (polydactylie pré- ou post-axiale des mains et/ou des pieds avec une syndactylie cutanée variable), des anomalies craniofaciales (de type macrocéphalie, front proéminent, hypertélorisme et pont nasal large), similaires à celles observées chez les patients atteints du syndrome de céphalopolysyndactylie de Greig, ainsi qu'un retard de développement marqué, une déficience intellectuelle modérée à sévère, des crises convulsives et des anomalies structurelles du cerveau, notamment une agénésie ou une hypoplasie du corps calleux. D'autres anomalies du système nerveux central peuvent inclure une ventriculomégalie, une sténose de l'aqueduc et d'autres anomalies de la ligne médiane. Les patients présentent des microdélétions plus étendues englobant le gène <i>GLI3</i> et, selon la taille de la délétion, des signes cliniques supplémentaires tels que des hernies et une hyperglycémie, peuvent être observés."},"de":{"name":"Greig-Zephalopolysyndaktylie-Contiguous gene-Syndrom","synonyms":["GCP-CGS"]},"es":{"name":"Síndrome de cefalopolisindactilia de Greig-de genes contiguos","definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por polidactilia, sindactilia (polidactilia preaxial o postaxial de manos y/o pies con sindactilia cutánea variable), rasgos craneofaciales (incluyendo macrocefalia, abombamiento frontal, hipertelorismo y puente nasal ancho) &#8212;que son similares a los observados en pacientes con síndrome de cefalopolisindactilia de Greig&#8212;, así como marcado retraso del desarrollo, discapacidad intelectual de moderada a profunda, crisis epilépticas y anomalías estructurales cerebrales incluyendo agenesia/ hipoplasia del cuerpo calloso. Otras anomalías del sistema nervioso central pueden incluir ventriculomegalia, estenosis del acueducto y otros defectos de la línea media. Los pacientes presentan microdeleciones más grandes que abarcan al gen <i>GLI3</i> y, dependiendo del tamaño de la deleción, pueden presentar características clínicas adicionales como hernias e hiperglucemia."},"it":{"name":"Sindrome da geni contigui-cefalopolisindattilia di Greig","synonyms":["GCP-SCG"]},"nl":{"name":"Greig-cefalopolysyndactylie - 'contiguous gene'-syndroom","synonyms":["GCP-CGS"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door polydactylie, syndactylie (pre- of postaxiale polydactylie van handen en/of voeten met variabele cutane syndactylie), craniofaciale kenmerken (waaronder macrocefalie, boller voorhoofd, hypertelorisme en brede neusbrug) die gelijkaardig zijn aan de kenmerken die worden waargenomen bij patiënten met Greig-cefalopolysyndactyliesyndroom, alsook duidelijke ontwikkelingsachterstand, matige tot ernstige intellectuele achterstand, insulten en structurele hersenafwijkingen zoals agenesie/hypoplasie van corpus callosum. Mogelijke bijkomende anomalieën van centraal zenuwstelsel zijn ventriculomegalie, aqueductstenose en andere defecten van de middellijn. Patiënten hebben grotere microdeleties die het gen <i>GLI3</i> bevatten, en afhankelijk van de omvang van de deletie kunnen bijkomende klinische kenmerken zoals hernia's en hyperglycemie aanwezig zijn."},"pt":{"name":"Síndrome Greig de cefalopolissindactilia-gene contíguo","synonyms":["GCP-CGS"]},"pl":{"name":"Zespół związany z genami sąsiadującymi z locus dla cefalopolisyndaktylii Greiga","synonyms":["GCP-CGS"]},"cs":{"name":"Syndrom Greigovy cefalopolysyndaktylie a přilehlých genů","synonyms":["GCP-CGS"]},"uk":{"name":"Синдром цефалополісиндактилії Грейга","synonyms":["GCP-CGS"]}},"xrefs":[{"source":"OMIM","code":"175700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958130","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958130","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925145","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363250,"name":"Ciliopathy","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":261911,"name":"Partial deletion of the short arm of chromosome 7 syndrome","classifications":[147,156]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34828280[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"34828280[PMID]"}],"phenotypes":null}