{"orpha":1512,"name":"Crane-Heise syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1512/","orphanet_url":"https://www.orpha.net/en/disease/detail/1512","names":{"fr":{"name":"Syndrome de Crane-Heise","definition":"Le syndrome de Crane-Heise est un syndrome très rare associant une hypo minéralisation sévère de la boite crânienne, une dysmorphie faciale, des anomalies vertébrales et une absence des clavicules."},"de":{"name":"Crane-Heise-Syndrom","definition":"Das Crane-Heise-Syndrom ist sehr selten und gekennzeichnet durch ungenügend mineralisiertes Schädeldach, kranio-faziale Dysmorphien, Wirbelanomalien und fehlende Schlüsselbeine."},"es":{"name":"Síndrome de Crane Heise","definition":"El síndrome de Crane-Heise es un síndrome muy raro caracterizado por: hipomineralización grave de la bóveda craneal, dismorfia facial, anomalías vertebrales y ausencia de clavículas."},"it":{"name":"Sindrome di Crane-Heise"},"nl":{"name":"Syndroom van Crane-Heise","definition":"Een zeer zeldzaam syndroom, gekenmerkt door weinig gemineraliseerd schedeldak, faciale dysmorfie, afwijkingen van wervels, en afwezige sleutelbeenderen."},"pt":{"name":"Síndrome Crane-Heise","definition":"O síndrome de Crane-Heise é um síndrome muito raro caracterizado por deficiente mineralização do crânio, dismorfismo facial, anomalias vertebrais e ausência das clavículas."},"pl":{"name":"Zespół Crane'a i Heise'a"},"cs":{"name":"Craneův-Heiseův syndrom","synonyms":["Crane-Heiseův syndrom"]},"uk":{"name":"Синдром Крейна-Хейзе","definition":"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles."},"zh":{"name":"Crane-Heise综合征"},"tr":{"name":"Crane-Heise sendromu"}},"xrefs":[{"source":"OMIM","code":"218090","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009028","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536452","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857532","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8428","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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"21094705[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21094705[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006660","label":"Aplastic clavicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000882","label":"Hypoplastic scapulae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","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:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}