{"orpha":3063,"name":"X-linked intellectual disability, Snyder type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Snyder-Robinson syndrome"],"definition":"X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3063/","orphanet_url":"https://www.orpha.net/en/disease/detail/3063","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Snyder","synonyms":["Syndrome de Snyder-Robinson"],"definition":"Le syndrome de Snyder-Robinson (SRS) est un syndrome de déficience intellectuelle liée à l'X, incluant également une hypotonie, une démarche vacillante, une ostéoporose, une cyphoscoliose et une asymétrie du visage. Une atteinte psychomotrice généralisée sévère évoluant vers une déficience intellectuelle globale modérée à profonde a aussi été observée."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Snyder","synonyms":["Snyder-Robinson-Syndrom"]},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Snyder","synonyms":["Síndrome de Snyder-Robinson"],"definition":"Es un síndrome de discapacidad intelectual poco frecuente ligado al cromosoma X caracterizado por hipotonía, complexión asténica con disminución de la masa muscular, retraso psicomotor generalizado grave, marcha inestable y discapacidad intelectual de moderada a grave, así como cara asimétrica con labio inferior prominente, dedos de manos y pies largos y habla nasal, disártrica o ausente. Las anomalías óseas (p. ej., osteoporosis, cifoescoliosis, fracturas, contracturas articulares) también son características. En algunos pacientes se han asociado crisis mioclónicas o de tipo mioclónico y anomalías renales."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Snyder","synonyms":["Sindrome di Snyder-Robinson"]},"nl":{"name":"X-gebonden intellectuele achterstand, Snyder-type","synonyms":["Syndroom van Snyder-Robinson"],"definition":"Snyder-Robinsonsyndroom (SRS) is een X-gebonden intellectuele stoornissyndroom dat ook hypotonie, een onvaste tred, osteoporose, kyfoscoliose en gezichtsasymmetrie omvat. Ernstige algemene psychomotorische stoornis die evolueert naar matige tot uitgesproken algehele intellectuele stoornis wordt ook waargenomen."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Snyder","synonyms":["Síndrome Snyder-Robinson"]},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X typu Snydera","synonyms":["Zespół Snydera i Robinsona"]},"cs":{"name":"X-vázaná mentální retardace, Snyderův typ","synonyms":["Snyderův-Robinsonův syndrom","Snyder-Robinsonův syndrom"]},"uk":{"name":"Х-зчеплена розумова відсталість, тип Снайдера","synonyms":["Синдром Снайдера-Робінсона"],"definition":"X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients."},"zh":{"name":"X连锁智力障碍，Snyder亚型","synonyms":["Snyder-Robinson综合征"]},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Snyder tipi","synonyms":["Snyder-Robinson sendromu"]}},"xrefs":[{"source":"OMIM","code":"309583","qualifier":"E","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":"0010664","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536678","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796160","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5615","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]}],"children":[],"genes":[{"symbol":"SMS","name":"spermine synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23805436[PMID]","hgnc":"11123","ensembl":"ENSG00000102172","omim":"300105","loci":["Xp22.11"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"23897707[PMID]_23696453[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23897707[PMID]_23696453[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-04","source":"23897707[PMID]_23696453[PMID]_19206178[PMID]_19277733[PMID]_18550699[PMID]_14508504[PMID]_8826448[PMID]_5823961[PMID]_30237987[PMID]","terms":[{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011308","label":"Slender toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010722","label":"Asymmetry of the ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003698","label":"Difficulty standing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","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:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007509","label":"Patchy hypo- and hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000029","label":"Testicular atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007687","label":"Unilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010789","label":"Abnormality of the Leydig cells","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002181","label":"Cerebral edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001355","label":"Megalencephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000385","label":"Small earlobe","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000391","label":"Thickened helices","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very rare (<4-1%)","criteria":null}]}}