{"orpha":2865,"name":"Short stature-webbed neck-heart disease syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Al Gazali-Aziz-Salem syndrome"],"definition":"Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2865/","orphanet_url":"https://www.orpha.net/en/disease/detail/2865","names":{"fr":{"name":"Syndrome de petite taille-pterygium colli-cardiopathie congénitale","synonyms":["Syndrome d'Al Gazali-Aziz-Salem"],"definition":"Le syndrome de petite taille-pterygium colli-cardiopathie congénitale est caractérisé par une petite taille, un déficit intellectuel, une dysmorphie faciale, un cou palmé et court, des anomalies cutanées et une cardiopathie congénitale. Il a été décrit dans une fratrie de quatre enfants bédouins nés de parents consanguins."},"de":{"name":"Kleinwuchs-Pterygium colli-Kardiopathie-Syndrom","synonyms":["Al Gazali-Aziz-Salem-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch Kleinwuchs, Intelligenzminderung, faziale Dysmorphien, kurzen Hals mit Pterygium, Hautveränderungen und angeborene Herzfehler."},"es":{"name":"Síndrome de talla baja-cuello alado-trastorno cardiaco","definition":"Es un síndrome caracterizado por talla baja, discapacidad intelectual, dismorfia facial, cuello corto y alado, cambios en la piel y cardiopatías congénitas. Se ha descrito en cuatro hermanos árabes beduinos de padres consanguíneos."},"it":{"name":"Bassa statura - pterigio del collo - cardiopatia","synonyms":["Sindrome di Al Gazali-Aziz-Salem"]},"nl":{"name":"Kleine gestalte - pterygium colli - hartziekte-syndroom","synonyms":["Syndroom van Al Gazali-Aziz-Salem"],"definition":"Een syndroom, gekenmerkt door kleine gestalte, intellectuele achterstand, faciale dysmorfie, korte hals met laterale huidplooien (pterygium colli), veranderingen van huid, en congenitale hartdefecten. Kleine gestalte - pterygium colli - hartziekte-syndroom werd gerapporteerd bij vier broers/zussen van een Arabische Bedoeïenenstam en met bloedverwante ouders."},"pt":{"name":"Síndrome de baixa estatura-pterígio do pescoço-cardiopatia","synonyms":["Síndrome Al Gazali-Aziz-Salem"]},"pl":{"name":"Niski wzrost - płetwistość szyi - choroba serca","synonyms":["Zespół Al Gazali, Aziz i Salem"]},"cs":{"name":"Syndrom zahrnující nízký vzrůst, pterygium colli a onemocnění srdce","synonyms":["Al Gazaliové-Azizův-Salemův syndrom","Al Gazali-Aziz-Salemův syndrom"]},"uk":{"name":"Синдром низькорослості-крилоподібної шиї-серцево-судинних захворювань","synonyms":["Синдром Аль-Газалі-Азіза-Салема"],"definition":"Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents."},"zh":{"name":"身材矮小-蹼状颈-心脏病综合征","synonyms":["Al-Gazali-Aziz-Salem综合征"]},"tr":{"name":"Kısa boy perdeli boyun-kalp hastalığı sendromu","synonyms":["Al Gazali-Aziz-Salem sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017315","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535613","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930950","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"583","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":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"8905197[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8905197[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-12","source":"8905197[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null}]}}