{"orpha":2323,"name":"Sanjad-Sakati syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HRD syndrome","Hypoparathyroidism-intellectual disability-dysmorphism syndrome","Hypoparathyroidism-short stature-intellectual disability-seizures syndrome","Richardson-Kirk syndrome","SSS"],"definition":"Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2323/","orphanet_url":"https://www.orpha.net/en/disease/detail/2323","names":{"fr":{"name":"Syndrome de Sanjad-Sakati","synonyms":["SSS","Syndrome HRD","Syndrome d'hypoparathyroïdie-déficience intellectuelle-dysmorphie","Syndrome d'hypoparathyroïdie-petite taille-déficience intellectuelle-convulsions","Syndrome de Richardson-Kirk"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique, principalement présent au Moyen-Orient et dans les pays du golfe Persique, caractérisé par un retard de croissance intra-utérin à la naissance, une microcéphalie, une hypoparathyroïdie congénitale (qui peut provoquer une tétanie hypocalcémique ou des crises d'épilepsie dans la petite enfance), un retard de croissance sévère, une dysmorphie caractéristique (visage long et étroit, yeux enfoncés dans les orbites, nez en « bec de canard », oreilles grandes et tombantes, long philtrum, lèvres fines et micrognathie) et une déficience intellectuelle légère à modérée. Des anomalies oculaires (nanophtalmie, tortuosité vasculaire rétinienne et opacification/nuage de la cornée) et le syndrome de l'artère mésentérique supérieure ont également été décrits. Bien que le syndrome de Sanjad-Sakati partage le même locus que la forme autosomique récessive du syndrome de Kenny-Caffey, ce dernier se distingue du SSS par une intelligence normale et par l'absence d'atteinte squelettique."},"de":{"name":"Sanjad-Sakati-Syndrom","synonyms":["HRD-Syndrom","Hypoparathyreoidismus-Intelligenzminderung-Dysmorphie-Syndrom","Hypoparathyreoidismus-Kleinwuchs-Intelligenzminderung-zerebrale Krämpfe-Syndrom","Richadson-Kirk-Syndrom","SSS"],"definition":"Das Sanjad Sakati Syndrom (SSS), auch bekannt als Hypoparathyreoidismus-Intelligenzdefizit-Dysmorphie-Syndrom, ist eine seltene Störung mit multiplen angeborenen Anomalien, die hauptsächlich im Nahen Osten und in den Ländern am Persischen Golf auftritt. Das Syndrom ist gekennzeichnet durch intrauterine Wachstumsrestriktion bei der Geburt, Mikrozephalie, angeborenen Hypoparathyreoidismus (der im Säuglingsalter zu hypokalzämischer Tetanie oder Krampfanfällen führen kann), schwerer Wachstumsverzögerung, typischen Gesichtsmerkmalen (langes schmales Gesicht, tiefliegende Augen, Schnabelnase, hängende und große Ohren, langes Philtrum, dünne Lippen und Mikrogenie) und leichter bis mittelschwerer Intelligenzminderung. Augenbefunde (d. h. Nanophthalmie, retinale Gefäßtortuosität und Hornhauttrübung/-trübung) und das Syndrom der A. mesenterica superior wurden ebenfalls berichtet. Obwohl das SSS denselben Genort wie die autosomal-rezessive Form des Kenny-Caffey-Syndroms (siehe dort) hat, unterscheidet sich letzteres vom SSS durch seine normale Intelligenz und seine Skelettmerkmale."},"es":{"name":"Síndrome de Sanjad-Sakati","synonyms":["Síndrome de Richardson-Kirk","Síndrome de hipoparatiroidismo-discapacidad intelectual-dismorfia","Síndrome de hipoparatiroidismo-talla baja-discapacidad intelectual-crisis"],"definition":"Es un síndrome poco frecuente de múltiples anomalías congénitas, que se presenta principalmente en los países de Oriente Medio y el Golfo Arábigo, caracterizado por restricción en el crecimiento intrauterino al nacimiento, microcefalia, hipoparatiroidismo congénito (que puede producir tetania hipocalcémica o convulsiones en la lactancia), retraso grave en el crecimiento, rasgos faciales característicos (cara alargada y estrecha, ojos hundidos, nariz picuda, orejas caídas y grandes, surco nasolabial largo, labios delgados y micrognatia), y discapacidad intelectual de leve a moderada. También se han descrito hallazgos oculares (tales como nanoftalmia, tortuosidad vascular retiniana y opacificación de la córnea) además del síndrome de la arteria mesentérica superior. Aunque este síndrome comparte el mismo locus con la forma autosómica recesiva del síndrome de Kenny-Caffey, este último difiere del que aquí se describe por su inteligencia normal y sus características esqueléticas."},"it":{"name":"Sindrome di Sanjad-Sakati","synonyms":["SSS","Sindrome HRD","Sindrome di Richardson-Kirk","Sindrome ipoparatiroidismo-bassa statura-disabilità cognitiva-convulsioni","Sindrome ipoparatiroidismo-disabilità cognitiva-dismorfismi","Sindrome ipoparatiroidismo-disabilità intellettiva-dismorfismi"],"definition":"La sindrome di Sanjad-Sakati (SSS), nota anche come ipoparatiroidismo-disabilità intellettiva-dismorfismi, è una sindrome rara da anomalie congenite multiple, presente prevalentemente nel Medioriente e nei Paesi del Golfo Persico. È caratterizzata da ritardo della crescita intrauterina, microcefalia, ipoparatiroidismo congenito (che può causare tetania ipocalcemica o crisi epilettiche nel periodo neonatale), grave ritardo della crescita, dismorfismi facciali caratteristici (viso stretto e allungato, occhi infossati, naso ''a becco'', orecchie grandi e cadenti, filtro lungo, labbra sottili e micrognatia) e deficit intellettivo lieve o moderato. Sono stati descritti anche segni oculari (nanoftalmo, tortuosità vascolare retinica e opacità corneali) e la sindrome dell'arteria mesenterica superiore. Sebbene la SSS condivida lo stesso locus implicato nella forma autosomica recessiva della sindrome di Kenny-Caffey (si veda questo termine), quest'ultima si differenzia dalla SSS per lo sviluppo intellettivo normale e per le caratteristiche scheletriche."},"nl":{"name":"Syndroom van Sanjad-Sakati","synonyms":["HRD-syndroom","Hypoparathyreoïdie - intellectuele achterstand - dysmorfie-syndroom","Hypoparathyreoïdie - kleine gestalte - intellectuele achterstand - insulten-syndroom","SSS","Syndroom van Richardson-Kirk"],"definition":"Syndroom van Sanjad-Sakati (SSS), ook gekend als hypoparathyreoïdie-intellectuele achterstand-dysmorfie, is een zeldzaam syndroom met multipele congenitale anomalieën dat voornamelijk voorkomt in het Midden-Oosten en de Golfstaten, en dat gekarakteriseerd wordt door intra-uteriene groeirestrictie bij de geboorte, microcefalie, congenitale hypoparathyreoïdie (die hypocalciëmische tetanie of insulten in de zuigelingentijd kan veroorzaken), ernstige groeiretardatie, typische gelaatskenmerken (lang en smal gelaat, diepliggende ogen, snavelvormige neus, grote flaporen, lang filtrum, dunne lippen en micrognathie), en milde tot matige intellectuele achterstand. Oculaire bevindingen (i.e. nanoftalmie, retinale vasculaire tortuositeit en opacificatie/vertroebeling van de cornea) en superieure mesenterische arterie-syndroom werden ook reeds gerapporteerd. Hoewel SSS dezelfde locus deelt met de autosomaal recessieve vorm van syndroom van Kenny-Caffey (zie deze term), verschilt laatstgenoemde van SSS door zijn normale intelligentie en skeletkenmerken."},"pt":{"name":"Síndrome Sanjad-Sakati","synonyms":["SSS","Síndrome HRD","Síndrome Richardson-Kirk","Síndrome de hipoparatiroidismo-baixa estatura-perturbação do desenvolvimento intelectual-convulsões","Síndrome de hipoparatiroidismo-perturbação do desenvolvimento intelectual-dismorfia"]},"pl":{"name":"Zespół Sanjada i Sakatiego","synonyms":["SSS","Zespół HRD","Zespół niedoczynności przytarczyc, niepełnosprawności intelektualnej i dysmorfii","Zespół niedoczynności przytarczyc, niskiego wzrostu, niepełnosprawności intelektualnej i napadów padaczkowych","Zespół Richardsona i Kirka"]},"cs":{"name":"Sanjadův-Sakatiové syndrom","synonyms":["HRD syndrom","Syndrom zahrnující hypoparatyreózu, mentální retardaci a dysmorfismus","Syndrom zahrnující hypoparatyreózu, nízký vzrůst, mentální retardaci a záchvaty","SSS","Richardsonův-Kirkův syndrom","Sanjad-Sakatiové syndrom","Richardson-Kirkův syndrom"]},"uk":{"name":"Синдром Санджада-Сакаті","synonyms":["Синдром HRD","Синдром гіпопаратиреозу - інтелектуальної недостатності - дисморфізму","Синдром гіпопаратиреозу- низькорослості - інтелектуальної недостатності - судом","Синдром Річардсона-Кірка","SSS"],"definition":"Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features."},"zh":{"name":"Sanjad-Sakati综合征","synonyms":["甲状旁腺功能减退-身材矮小-智力障碍-癫痫发作综合征"]},"tr":{"name":"Sanjad-Sakati sendromu","synonyms":["SSS","HRD sendromu","Richardson-Kirk sendromu","Hipoparatiroidi-zihinsel yetersizlik-dismorfizm sendromu","Hipoparatiroidi-kısa boy-zihinsel yetersizlik-nöbet sendromu"]}},"xrefs":[{"source":"OMIM","code":"241410","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.D","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2048452638"},{"source":"MONDO","code":"0009426","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9426","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537157","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855840","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"411","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]},{"orpha":181402,"name":"Syndrome with hypoparathyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"TBCE","name":"tubulin folding cofactor E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12389028[PMID]","hgnc":"11582","ensembl":"ENSG00000284770","omim":"604934","loci":["1q42.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008198","label":"Congenital hypoparathyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002905","label":"Hyperphosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008846","label":"Severe intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005374","label":"Cellular immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005686","label":"Patchy osteosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}