{"orpha":1798,"name":"Craniofacial dysostosis-diaphyseal hyperplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Autosomal dominant osteosclerosis, Stanescu type","Dysostosis, Stanescu type","Stanescu osteosclerosis"],"definition":"A rare primary bone dysplasia with increased bone density characterized by craniofacial dysostosis with a small cranium and thin skull bone, depressions over the frontoparietal and occipitoparietal sutures, marked hypoplasia of mandible, exophthalmos, cortical sclerosis of the long bones and normal intelligence. The long bones are short and bent, and thickening of bone cortex occurs during the pubertal and post-pubertal periods and increases with age. There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1798/","orphanet_url":"https://www.orpha.net/en/disease/detail/1798","names":{"fr":{"name":"Syndrome de dysostose craniofaciale-hyperplasie diaphysaire","synonyms":["Dysostose type Stanescu","Ostéosclérose type Stanescu","Ostéosclérose type Stanescu autosomique dominant"],"definition":"Dysplasie osseuse primaire condensante rare caractérisée par une dysostose craniofaciale avec un petit crâne et un amincissement de la boîte crânienne, des dépressions au niveau des sutures frontopariétale et pariéto-occipitale, une hypoplasie mandibulaire marquée, une exophtalmie, une sclérose affectant la corticale des os longs, l'intelligence étant intacte. Les os longs sont courts et courbés, et l'épaississement de la corticale osseuse survient pendant les périodes pubertaire et post-pubertaire et augmente avec l'âge. Aucun cas n'a été décrit dans la littérature depuis 1995."},"de":{"name":"Kraniofaziale Dysostose-Diaphysenhyperplasie-Syndrom","synonyms":["Dysostose Typ Stanescu","Osteosklerose, autosomal-dominante, Typ Stanescu","Stanescu-Osteosklerose"],"definition":"Eine seltene primäre Knochendysplasie mit erhöhter Knochendichte, die durch kraniofaziale Dysostose mit kleinem Schädel und dünnem Schädelknochen, Vertiefungen über den frontoparietalen und okzipitoparietalen Nähten, ausgeprägter Hypoplasie des Unterkiefers, Exophthalmus, kortikaler Sklerose der langen Knochen und normaler Intelligenz gekennzeichnet ist. Die langen Knochen sind kurz und gekrümmt, und eine Verdickung der Knochenrinde tritt während der Pubertät und danach auf und nimmt mit zunehmendem Alter zu. Seit 1995 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de disostosis craneofacial-hiperplasia diafisaria","synonyms":["Disostosis tipo Stanescu","Osteoesclerosis autómica dominante tipo Stanescu","Osteoesclerosis de Stanescu"],"definition":"Es una displasia ósea primaria poco frecuente con aumento de la densidad ósea, caracterizada por disostosis craneofacial asociada a cráneo pequeño y huesos del cráneo delgados, depresiones sobre las suturas frontoparietal y occipitoparietal, marcada hipoplasia mandibular, exoftalmos, esclerosis cortical de los huesos largos e inteligencia normal. Los huesos largos están acortados e incurvados, y el engrosamiento de la corteza ósea se produce durante los períodos puberal y pospuberal, incrementándose con la edad. No ha habido más descripciones en la literatura desde 1995."},"it":{"name":"Sindrome disostosi craniofacciale-iperplasia diafisaria","synonyms":["Disostosi craniofacciale - iperplasia diafisaria","Disostosi, tipo Stanescu","Osteosclerosi autosomica dominante, tipo Stanescu","Osteosclerosi di Stanescu"]},"nl":{"name":"Craniofaciale dysostose - diafysaire hyperplasie-syndroom","synonyms":["Autosomaal dominante osteosclerose, Stanescu-type","Dysostose, Stanescu-type","Osteosclerose, Stanescu-type"],"definition":"Een zeldzame primaire botdysplasie met verhoogde botdensiteit, gekenmerkt door craniofaciale dysostose met kleine schedel en dun schedelbot, depressie boven frontopariëtale en occipitopariëtale suturen, duidelijke hypoplasie van onderkaak, exoftalmie, corticale sclerose van pijpbeenderen, en normale intelligentie. Pijpbeenderen zijn kort en gebogen, en verdikking van botcortex treedt op tijdens puberale en postpuberale periodes en neemt toe met het ouder worden. Sinds 1995 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de disostose craniofacial-hiperplasia diafisária","synonyms":["Disostose, tipo Stanescu","Osteosclerose Stanescu","Osteosclerose autossómica dominante, tipo Stanescu"],"definition":"Displasia óssea primária rara com aumento da densidade óssea caracterizada por disostose craniofacial com diminuição do tamanho e espessura do crânio, depressões sobre as suturas frontoparietal e occipitoparietal, hipoplasia acentuada da mandíbula, exoftalmia, esclerose cortical dos ossos longos e inteligência normal. Os ossos longos são curtos e curvados, e o espessamento do córtex ósseo ocorre durante os períodos puberal e pós-puberal e aumenta com a idade. Não existem descrições adicionais na literatura desde 1995."},"pl":{"name":"Dyzostoza typu Stanescu","synonyms":["Autosomalna dominująca osteoskleroza, typu Stanescu","Dyzostoza czaszkowo-twarzowa - hiperplazja przynasad","Osteoskleroza Stanescu","Zespół dyzostozy czaszkowo-twarzowej i przerostu trzonów kości"],"definition":"Rzadka pierwotna dysplazja szkieletowa ze zwiększoną gęstością kości, która charakteryzuje się dysostozą czaszkowo-twarzową z małą czaszką i ścieńczeniem kości czaszki, zagłębieniami nad szwami czołowo-ciemieniowymi i potyliczno-ciemieniowymi, wyraźną hipoplazją żuchwy, wytrzeszczem, stwardnieniem korowym kości długich i prawidłową inteligencją. Kości długie są krótkie i wygięte, a pogrubienie kory kości występuje w okresie dojrzewania / po okresie dojrzewania i nasila się wraz z wiekiem. Od 1995 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Dysostóza, Stanescuův typ","synonyms":["Syndrom zahrnující kraniofaciální dysostózu a diafyzární hyperplázii","Stanescuova osteoskleróza","Autozomálně dominantní osteoskleróza, Stanescuův typ"]},"uk":{"name":"Синдром черепно-лицевого дизостозу-діафізарної гіперплазії","synonyms":["Аутосомно-домінантний остеосклероз, тип Станеску","Дизостоз, тип Станеску","Остеосклероз Станеску"],"definition":"Stanescu type dysostosis is a rare form of osteosclerosis."},"zh":{"name":"骨发育不全，Stanescu型","synonyms":["颅面骨发育不良-骨干增生综合征"]},"tr":{"name":"Disostoz, Stanescu tipi","synonyms":["Stanescu osteoskleroz","Otozomal dominant osteoskleroz, Stanescu tipi","Kraniyofasiyal dizostoz-diyafizer hiperplazi sendromu"]}},"xrefs":[{"source":"OMIM","code":"122900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"953486481"},{"source":"MONDO","code":"0007396","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562974","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432263","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2016","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005665","label":"Massively thickened long bone cortices","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004474","label":"Persistent open anterior fontanelle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","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:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Occasional (29-5%)","criteria":null}]}}