{"orpha":2409,"name":"Lowry-MacLean syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2409/","orphanet_url":"https://www.orpha.net/en/disease/detail/2409","names":{"fr":{"name":"Syndrome de Lowry-MacLean","definition":"Syndrome très rare associant une microcéphalie, une crâniosynostose, un glaucome, un retard de croissance et des malformations viscérales."},"de":{"name":"Lowry-Maclean-Syndrom","definition":"Das Lowry-MacLean-Syndrom ist sehr selten und gekennzeichnet durch Mikrozephalie, Kraniosynostose, Glaukom, Kleinwuchs und Fehlbildungen innerer Organe."},"es":{"name":"Síndrome de Lowry-MacLean","definition":"El síndrome de Lowry-MacLean es un síndrome muy raro caracterizado por: microcefalia, craneosinostosis, glaucoma, retraso en el crecimiento y malformaciones viscerales."},"it":{"name":"Sindrome di Lowry-Maclean"},"nl":{"name":"Syndroom van Lowry-MacLean","definition":"Een zeer zeldzaam syndroom, gekenmerkt door microcefalie, craniosynostose, glaucoom, groeifalen, en viscerale malformaties."},"pt":{"name":"Síndrome Lowry-Maclean","definition":"A síndrome de Lowry-MacLean é uma síndrome muito rara, caracterizada por microcefalia, craniossinostose, glaucoma, atraso de crescimento e malformações viscerais."},"pl":{"name":"Zespół Lowry'ego i MacLeana"},"cs":{"name":"Lowryho-MacLeanův syndrom","synonyms":["Lowry-MacLeanův syndrom"]},"uk":{"name":"Синдром Лоурі-Макліна","definition":"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations."},"zh":{"name":"Lowry-MacLean综合征"},"tr":{"name":"Lowry-MacLean sendromu"}},"xrefs":[{"source":"OMIM","code":"600252","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"698387769"},{"source":"MONDO","code":"0010851","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537037","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796020","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3300","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":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"9415481[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9415481[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-06","source":"9415481[PMID]_281275[PMID]_7856667[PMID]","terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002012","label":"Abnormality of the abdominal organs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000680","label":"Delayed eruption of primary teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001087","label":"Developmental glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100538","label":"Abnormality of the supraorbital ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004439","label":"Craniofacial dysostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025247","label":"Dermoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004554","label":"Generalized hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005211","label":"Midgut malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003194","label":"Short nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000237","label":"Small anterior fontanelle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011087","label":"Talon cusp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005442","label":"Widely patent coronal suture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}