{"orpha":459070,"name":"X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["RPL10-related neurodevelopmental disorder","RPL10-related X-linked intellectual disability"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-459070/","orphanet_url":"https://www.orpha.net/en/disease/detail/459070","names":{"fr":{"name":"Syndrome de déficience intellectuelle hypoplasie cérébelleuse-dysplasie spondyloépiphysaire","synonyms":["Trouble du neurodéveloppement associé à RPL10","Syndrome de déficience intellectuelle liée à l'X associé à RPL10"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique d'origine génétique rare caractérisé par un retard global du développement, une déficience intellectuelle, un retard de croissance, une hypotonie, des symptômes d'atteinte cérébelleuse tels qu'une ataxie, une dysplasie spondylo-épiphysaire et une dysmorphie crânio-faciale (notamment une microcéphalie, une dolichocéphalie, des oreilles proéminentes, un épicanthus, un large pont nasal, un philtrum long et plat ou une petite bouche). Les autres signes cliniques rapportés incluent l'épilepsie, la rétinite pigmentaire et les malformations urogénitales. L'IRM peut révéler une hypoplasie cérébelleuse."},"de":{"name":"X-chromosomale Intelligenzminderung-zerebelläre Hypoplasie-spondyloepiphysäre Dysplasie-Syndrom","synonyms":["RPL10-assoziierte neurologische Entwicklungsstörung","X-chromosomale Intelligenzminderung, RPL10-assoziierte"],"definition":"Ein seltenes genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch globale Entwicklungsverzögerung, Intelligenzminderung, Wachstumsretardierung, Hypotonie, zerebelläre Symptome wie Ataxie, spondyloepiphyseale Dysplasie und dysmorphe kraniofaziale Merkmale (einschließlich Mikrozephalie, Dolichozephalie, abstehende Ohren, Epikanthus, breiter Nasenrücken, langes und flaches Philtrum oder kleiner Mund) gekennzeichnet ist. Weitere gemeldete Manifestationen sind unter anderem Epilepsie, Retinitis pigmentosa und urogenitale Anomalien. Die Bildgebung des Gehirns kann eine Kleinhirnhypoplasie zeigen."},"es":{"name":"Síndrome de discapacidad intelectual-hipoplasia cerebelosa-displasia espondiloepifisaria ligado al cromosoma X","synonyms":["Trastorno del neurodesarrollo asociado al gen RPL10","Discapacidad intelectual ligada al cromosoma X asociada al gen RPL10"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por retraso global del desarrollo, discapacidad intelectual, retraso del crecimiento, hipotonía, síntomas cerebelosos como ataxia, displasia espondiloepifisaria y rasgos craneofaciales dismórficos (incluyendo microcefalia, dolicocefalia, orejas prominentes, epicanto, puente nasal ancho, filtrum largo y plano, o boca pequeña). Otras manifestaciones descritas son epilepsia, retinitis pigmentaria y anomalías urogenitales, entre otras. La neuroimagen puede mostrar hipoplasia cerebelosa."},"it":{"name":"Sindrome disabilità intellettiva-ipoplasia cerebellare-displasia spondiloepifisaria legata all'X","synonyms":["Disabilità intellettiva legata all'X correlata a RPL10","Malattia del neurosviluppo correlata a RPL10"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva, ritardo della crescita, ipotonia, sintomi cerebellari (atassia), displasia spondiloepifisaria e dismorfismi craniofacciali (microcefalia, dolicocefalia, orecchie prominenti, epicanto, sella nasale ampia, filtro lungo e piatto, bocca piccola). I pazienti possono presentare anche epilessia, retinite pigmentosa e anomalie urogenitali. Le neuroimmagini evidenziano una ipoplasia cerebellare."},"nl":{"name":"X-gebonden intellectuele achterstand - cerebellaire hypoplasie - spondylo-epifysaire dysplasie-syndroom","synonyms":["RPL10-gerelateerde neurologische ontwikkelingsstoornis","RPL10-gerelateerde X-gebonden intellectuele achterstand"],"definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom, gekarakteriseerd door algehele ontwikkelingsachterstand, intellectuele achterstand, groeiretardatie, hypotonie, cerebellaire symptomen zoals ataxie, spondylo-epifysaire dysplasie, en dysmorfe craniofaciale kenmerken (waaronder microcefalie, dolichocefalie, prominente oren, epicanthus, brede neusbrug, lang en plat filtrum, of kleine mond). Bijkomende manifestaties die werden gerapporteerd, zijn onder meer epilepsie, retinitis pigmentosa, en urogenitale anomalieën. Beeldvorming van hersenen toont mogelijk cerebellaire hypoplasie."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-hipoplasia cerebelosa-displasia espondilo-epifisária ligada ao X"},"pl":{"name":"Zespół niepełnosprawności intelektualnej sprzężonej z chromosomem X, hipoplazji móżdżku i dysplazji kręgowo-nasadowej","synonyms":["RPL10-related neurodevelopmental disorder","RPL10-related X-linked intellectual disability"]},"cs":{"name":"X-vázaná mentální retardace, cerebelární hypoplázie a spondyloepifyzární dysplázie","synonyms":["RPL10-related neurodevelopmental disorder","RPL10-related X-linked intellectual disability"]},"uk":{"name":"Х-зчеплений синдром розумової відсталості-гіпоплазії мозочка-спондило-епіфізарної дисплазії","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia."},"zh":{"name":"X连锁-智力障碍-小脑发育不全-脊椎骨骺发育不良综合征"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-serebellar hipoplazi-spondilo-epifizal displazi sendromu"}},"xrefs":[{"source":"OMIM","code":"300998","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018724","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5687848","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"RPL10","name":"ribosomal protein L10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26290468[PMID]","hgnc":"10298","ensembl":"ENSG00000147403","omim":"312173","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"26290468[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26290468[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-02","source":"25316788[PMID]_25846674[PMID]_26290468[PMID]_29066376[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040080","label":"Anteverted ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002655","label":"Spondyloepiphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006698","label":"Dilatation of the ventricular cavity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031535","label":"Increased theta frequency activity in EEG","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005750","label":"Lower-limb joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012811","label":"Wide nasal ridge","frequency":"Occasional (29-5%)","criteria":null}]}}