{"orpha":2522,"name":"Microcephaly-cervical spine fusion anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2522/","orphanet_url":"https://www.orpha.net/en/disease/detail/2522","names":{"fr":{"name":"Syndrome de microcéphalie-fusions des vertèbres cervicales","definition":"Le syndrome de microcéphalie-fusions des vertèbres cervicales est caractérisé par une microcéphalie, une dysmorphie (nez en bec d'oiseau, oreilles bas implantées, fentes palpébrales anti-mongoloïdes, micrognathie), un léger déficit intellectuel, une petite taille, et des fusions des vertèbres cervicales entraînant une compression de la moelle épinière . Il a été décrit chez deux frères nés de parents consanguins. La transmission est probablement autosomique récessive."},"de":{"name":"Syndrom der Mikrozephalie mit Fusionsanomalien der Halswirbelsäule","definition":"Dieses Syndrom ist gekennzeichnet durch Mikrozephalie, faziale Dysmorphien (Schnabelnase, tiefsitzende Ohren, anti-mongoloide Lidachsen, Mikrogenie), leichtes intellektuelles Defizit, Kleinwuchs und Fusionsanomalien der Halswirbelsäule, die eine Kompression des Rückenmarks verursachen. Das Syndrom wurde bei 2 Brüdern mit konsanguinen Eltern beschrieben. Wahrscheinlich wird das Syndrom autosomal-rezessiv vererbt."},"es":{"name":"Síndrome de microcefalia-anomalías de fusión de las vértebras cervicales","definition":"Es un síndrome caracterizado por microcefalia, dismorfia facial (nariz picuda, orejas de implantación baja, fisuras palpebrales descendentes, micrognatia), discapacidad intelectual leve, talla baja y anomalías de fusión de las vértebras cervicales que producen compresión de la médula espinal. Se ha descrito en dos hermanos con padres consanguíneos. Es probable que la transmisión sea autosómica recesiva."},"it":{"name":"Microcefalia - fusione delle vertebre cervicali"},"nl":{"name":"Microcefalie - fusie van cervicale wervelkolom-syndroom","definition":"Microcefalie - fusie van cervicale wervelkolom-syndroom wordt gekenmerkt door microcefalie, faciale dysmorfie (snavelvormige neus, laagstaande oren, schuin naar beneden hellende ooglidspleten, micrognathie), milde intellectuele achterstand, kleine gestalte, en fusie van cervicale wervelkolom die leidt tot compressie van ruggenmerg. Het werd beschreven bij twee broers van bloedverwante ouders. Transmissie gebeurt waarschijnlijk autosomaal recessief."},"pt":{"name":"Síndrome de microcefalia-fusão das vértebras cervicais"},"pl":{"name":"Małogłowie - anomalie szyjnego odcinka kręgosłupa"},"cs":{"name":"Syndrom zahrnující mikrocefalii a fúzi krční páteře"},"uk":{"name":"Синдром мікроцефалії та аномалії зрощення шийного відділу хребта","definition":"Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive."},"zh":{"name":"小头畸形-颈椎融合畸形综合征"},"tr":{"name":"Mikrosefali-servikal omurga füzyon anomalileri sendromu"}},"xrefs":[{"source":"OMIM","code":"251250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1688769192"},{"source":"MONDO","code":"0009621","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537325","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796066","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3610","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":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"5033742[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5033742[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004312","label":"Abnormality of reticulocytes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002949","label":"Fused cervical vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010620","label":"Malar prominence","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:0012371","label":"Midface prominence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null}]}}