{"orpha":1129,"name":"Arachnodactyly-abnormal ossification-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Kosztolanyi syndrome"],"definition":"A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1129/","orphanet_url":"https://www.orpha.net/en/disease/detail/1129","names":{"fr":{"name":"Syndrome d'arachnodactylie-ossification anormale-déficience intellectuelle","synonyms":["Syndrome de Kosztolanyi"],"definition":"Un syndrome congénital d'anomalies multiples du développement, caractérisé par une arachnodactylie affectant les doigts et les orteils, associée à une dysmorphie faciale (incluant une ossification crânienne anormale, une bosse frontale, une calvaria plate, des orbites déformées et peu profondes conduisant à une exophtalmie, une hypoplasie de l'étage moyen du visage et une micrognathie), des difficultés pour s'alimenter pendant la petite enfance, une hypotonie musculaire infantile et un retard de développement conduisant à un déficit intellectuel."},"de":{"name":"Arachnodaktylie-Ossifikationsstörungen-Intelligenzminderung-Syndrom","synonyms":["Kosztolanyi-Syndrom"]},"es":{"name":"Síndrome de aracnodactilia-osificación anómala-discapacidad intelectual","synonyms":["Síndrome de Kosztolanyi"],"definition":"Es un síndrome de múltiples anomalías congénitas del desarrollo caracterizado por aracnodactilia de los dedos de manos y pies asociado con dismorfia craneofacial (incluyendo osificación craneal anómala, protuberancia frontal, calvaria plana, órbitas deformadas poco profundas que resultan en exoftalmos, hipoplasia del tercio mediofacial y micrognatia), dificultades de alimentación e hipotonía muscular en el lactante, y retraso psicomotor que conduce a discapacidad intelectual."},"it":{"name":"Sindrome aracnodattilia-anomalia dell'ossificazione-disabilità intellettiva","synonyms":["Sindrome di Kosztolanyi"]},"nl":{"name":"Arachnodactylie - abnormale ossificatie - intellectuele achterstand-syndroom","synonyms":["Syndroom van Kosztolanyi"],"definition":"Een syndroom met multipele congenitale ontwikkelingsanomalieën, gekarakteriseerd door arachnodactylie van vingers en tenen, geassocieerd met craniofaciale dysmorfie (met onder meer abnormale ossificatie van schedel, boller voorhoofd, plat schedeldak, ondiepe en misvormde oogkassen met exoftalmie tot gevolg, hypoplasie van middengezicht en micrognathie), voedingsproblemen in de zuigelingentijd, infantiele musculaire hypotonie, en ontwikkelingsachterstand die leidt tot intellectuele beperking."},"pt":{"name":"Síndrome de aracnodactilia-defeitos da ossificação-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Kosztolanyi"]},"pl":{"name":"Arachnodaktylia - nieprawidłowa osteogeneza - niepełnosprawność intelektualna","synonyms":["Zespół Kosztolanyi"]},"cs":{"name":"Syndrom zahrnující arachnodaktylii, abnormální osifikaci a mentální retardaci","synonyms":["Kosztolanyiův syndrom"]},"uk":{"name":"Синдром арахнодактилії-аномального окостеніння-інтелектуальної недостатності","synonyms":["Синдром Коштолані"],"definition":"A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability."},"zh":{"name":"蜘蛛指畸形-异常骨化-智力障碍综合征","synonyms":["Kosztolanyi 综合征"]},"tr":{"name":"Araknodaktili-anormal ossifikasyon-zihinsel yetersizlik sendromu","synonyms":["Kosztolanyi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015234","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537024","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931398","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"381","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":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"8533819[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8533819[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-08","source":"8533819[PMID]","terms":[{"hpo":"HP:0010565","label":"Aplasia/Hypoplasia of the Epiglottis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000586","label":"Shallow orbits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010539","label":"Thin calvarium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null}]}}