{"orpha":50814,"name":"Craniolenticulosutural dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Boyadjiev-Jabs syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by large and late-closing fontanels (the anterior fontanel may not completely ossify in adulthood) associated with facial dysmorphism and mild generalized skeletal dysplasia. Patients usually present with short stature, significant hypertelorism and eye abnormalities (early onset cataract and other lens abnormalities, esotropia, optic atrophy). Associated facial features include abnormal hair (sparce and brittle), hyperpigmentation with capillary hemangioma on the forehead, macrocephaly, frontal bossing, wide nasal bridge, long philtrum, large mouth, thin vermilion, high arched palate and abnormal dentition. Other associated morphological abnormalities include vertebral wedging with scoliosis, high and narrow iliac wings, pectus excavatum, joint hypermobility and flat feet.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-50814/","orphanet_url":"https://www.orpha.net/en/disease/detail/50814","names":{"fr":{"name":"Dysplasie cranio-lenticulo-suturale","synonyms":["Syndrome de Boyadjiev-Jabs"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique se manifestant par des fontanelles larges dont la fermeture est tardive (la fontanelle antérieure peut ne pas être complètement ossifiée à l'âge adulte), associées à une dysmorphie faciale et à une discrète dysplasie squelettique généralisée. Les patients présentent généralement une petite taille, un hypertélorisme marqué et des anomalies oculaires (cataracte précoce et autres anomalies du cristallin, esotropie, atrophie optique). La dysmorphie associée comprend une chevelure anormale (clairsemée et cassante), une hyperpigmentation avec hémangiome capillaire sur le front, une macrocéphalie, un front proéminent, un pont nasal large, un philtrum long, une grande bouche, un vermillon fin, un palais ogival et une dentition anormale. D'autres anomalies morphologiques associées sont à type de vertèbres cunéiformes avec scoliose, d'ailes iliaques hautes et étroites, de thorax en entonnoir, d'hypermobilité articulaire et de pieds plats."},"de":{"name":"Dysplasie, kranio-lentikulo-suturale","synonyms":["Boyadjiev-Jabs-Syndrom"],"definition":"Die Kranio-lentikulo-suturale Dysplasie (CLSD), auch als Boyadjiev-Jabs-Syndrom bekannt, ist gekennzeichnet durch die spezifischen Assoziation von großen offenen Fontanellen, die sich erst spät verschließen, Hypertelorismus, früh entstehender Katarakt und leichter generalisierter Skelettdysplasie."},"es":{"name":"Displasia craneolenticulosutural","synonyms":["Síndrome de Boyadjiev-Jabs"],"definition":"En un síndrome dismórfico/de múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por fontanelas agrandadas y de cierre tardío (la fontanela anterior puede no osificarse completamente en la edad adulta), asociado a dismorfia facial y displasia esquelética generalizada leve. Los pacientes suelen presentar talla baja, hipertelorismo significativo y anomalías oculares (cataratas de aparición precoz y otras anomalías del cristalino, esotropía, atrofia óptica). Entre los rasgos faciales asociados se incluyen anomalías del cabello (escaso y quebradizo), hiperpigmentación con hemangioma capilar en la frente, macrocefalia, abombamiento frontal, puente nasal ancho, filtrum largo, boca grande, bermellón delgado, paladar ojival y alteraciones de la dentición. Otras anomalías morfológicas asociadas incluyen acuñamiento vertebral con escoliosis, alas ilíacas altas y estrechas, pectus excavatum, hipermovilidad articular y pies planos."},"it":{"name":"Displasia cranio-lenticulo-suturale","synonyms":["Sindrome di Boyadjiev-Jabs"]},"nl":{"name":"Cranio-lenticulo-suturale dysplasie","synonyms":["Syndroom van Boyadjiev-Jabs"],"definition":"Een zeldzaam genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door grote en laat sluitende fontanellen (de voorste fontanel is mogelijk niet volledig verbeend in de volwassenheid) geassocieerd met faciale dysmorfie en milde gegeneraliseerde skeletdysplasie. Patiënten presenteren zich meestal met kleine gestalte, significant hypertelorisme en oogafwijkingen (vroeg optredend cataract en andere afwijkingen van de lens, esotropie, opticusatrofie). Geassocieerde gelaatskenmerken zijn onder meer abnormaal haar (schaars en broos), hyperpigmentatie met capillair hemangioom op het voorhoofd, macrocefalie, boller voorhoofd, brede neusbrug, lang filtrum, grote mond, dun vermiljoen, hoog gebogen gehemelte, en afwijkende gebitselementen. Overige geassocieerde morfologische afwijkingen zijn onder meer wigvormige wervels met scoliose, hoge en smalle iliumvleugels, pectus excavatum (trechterborst), gewrichtshypermobiliteit en platvoeten."},"pt":{"name":"Displasia cranio-lenticulo-sutural","synonyms":["Síndrome Boyadjiev-Jabs"],"definition":"A displasia craniolenticulosutural (CLSD), também conhecida como síndrome de Boyadjiev-Jabs, é caracterizada pela associação específica de grandes fontanelas com fechamento tardio, hipertelorismo, cataratas de início precoce e displasia esquelética generalizada e leve."},"pl":{"name":"Dysplazja czaszkowo-soczewkowato-szwowa","synonyms":["Zespół Boyadjiev i Jabsa"]},"cs":{"name":"Kraniolentikulosuturální dysplázie","synonyms":["Boyadjievův-Jabsové syndrom","Boyadjiev-Jabsové syndrom"]},"uk":{"name":"Краніолентикулосуглобова дисплазія","synonyms":["Синдром Бояджієва-Джабса"],"definition":"Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia."},"zh":{"name":"颅豆状核发育不良","synonyms":["Boyadjiev-Jabs综合症"]},"tr":{"name":"Kraniolentikülosutural displazi","synonyms":["Boyadjiev-Jabs sendromu"]}},"xrefs":[{"source":"OMIM","code":"607812","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"970423180"},{"source":"MONDO","code":"0011911","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564332","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843042","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"SEC23A","name":"SEC23 homolog A, COPII component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16980979[PMID]","hgnc":"10701","ensembl":"ENSG00000100934","omim":"610511","loci":["14q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"12677423[PMID]","terms":[{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008808","label":"High iliac wings","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000685","label":"Hypoplasia of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008031","label":"Posterior Y-sutural cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008444","label":"Posterior wedging of vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006480","label":"Premature loss of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","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},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null}]}}