{"orpha":2521,"name":"Microcephaly-cleft palate-abnormal retinal pigmentation syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2521/","orphanet_url":"https://www.orpha.net/en/disease/detail/2521","names":{"fr":{"name":"Syndrome de microcéphalie-fente palatine-pigmentation rétinienne anormale","definition":"Un syndrome rare de fente oro-faciale caractérisé par une microcéphalie, une fente au niveau du palais secondaire et d'autres anomalies variables, incluant une pigmentation rétinienne anormale, une dysmorphie faciale avec un hypotélorisme et une hypoplasie maxillaire. Un goitre, une camptodactylie, des dermatoglyphes anormaux et un léger déficit intellectuel peuvent aussi être associés. Il n'y a pas eu de description ultérieure dans la littérature depuis 1983."},"de":{"name":"Mikrozephalie-Gaumenspalte-abnorme Retinapigmentierung-Syndrom","definition":"Ein seltenes orofaziales Syndrom, das durch Mikrozephalie, eine sekundäre Gaumenspalte und andere variable Anomalien gekennzeichnet ist, einschließlich abnormaler retinaler Pigmentierung, fazialer Dysmorphien mit Hypotelorismus und Maxillarhypoplasie. Weitere Merkmale wie Struma, Kamptodaktylie, abnorme Dermatoglyphen und eine leichte Intelligenzminderung können ebenfalls assoziiert sein. Seit 1983 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de microcefalia-paladar hendido-pigmentación retiniana anómala","synonyms":["Síndrome de Halal"],"definition":"Es un síndrome de hendidura orofacial poco frecuente caracterizado por microcefalia, hendidura del paladar secundario y otras anomalías variables, incluida la pigmentación retiniana anómala y la dismorfia facial con hipotelorismo e hipoplasia maxilar. También pueden asociarse bocio, camptodactilia, dermatoglifos anómalos y discapacidad intelectual leve. No ha habido más casos descritos en la literatura desde 1983."},"it":{"name":"Sindrome da microcefalia, palatoschisi e anomalie della pigmentazione retinica","synonyms":["Sindrome di Halal"],"definition":"La sindrome da microcefalia, palatoschisi e anomalie della pigmentazione retinica è una malattia rara con schisi orofacciali, caratterizzata da microcefalia, schisi del palato secondario e altre anomalie di gravità variabile (anomalie della pigmentazione della retina, dismorfismi facciali con ipotelorismo ed ipoplasia mascellare). Possono associarsi il gozzo, la camptodattilia, le anomalie dei dermatoglifi e una lieve disabilità intellettiva. Non sono stati descritti nuovi casi dopo il 1983."},"nl":{"name":"Microcefalie - gespleten verhemelte - abnormale retinale pigmentatie-syndroom","synonyms":["Syndroom van Halal"],"definition":"Microcefalie - gespleten verhemelte - abnormale retinale pigmentatie-syndroom is een zeldzaam schisissyndroom dat gekarakteriseerd wordt door microcefalie, gespleten secundair verhemelte en andere variabele afwijkingen, waaronder abnormale retinale pigmentatie, faciale dysmorfie met hypotelorisme en maxillaire hypoplasie. Struma, camptodactylie, abnormale dermatoglyfen en milde intellectuele achterstand kunnen ook geassocieerd zijn. Sinds 1983 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de microcefalia-fenda palatina-pigmentação da retina anormal","synonyms":["Síndrome Halal"]},"pl":{"name":"Małogłowie - rozszczep podniebienia","synonyms":["Zespół Halal"]},"cs":{"name":"Syndrom zahrnující mikrocefalii a rozštěp patra","synonyms":["Halalův syndrom"]},"uk":{"name":"Синдром мікроцефалії-розщілини піднебіння-аномальної пігментації сітківки","definition":"Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983."},"zh":{"name":"小头畸形-腭裂-视网膜异常色素沉着综合征"},"tr":{"name":"Mikrosefali-yarık damak-anormal retina pigmentasyon sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016750","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930954","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8623","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":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"6859112[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6859112[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-04","source":null,"terms":[{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null}]}}