{"orpha":2107,"name":"Hall-Riggs syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2107/","orphanet_url":"https://www.orpha.net/en/disease/detail/2107","names":{"fr":{"name":"Syndrome de Hall-Riggs","definition":"Le syndrome de Hall-Riggs est un syndrome très rare associant une microcéphalie, une dysmorphie faciale, une dysplasie spondylométa-épiphysaire et un déficit intellectuel sévère."},"de":{"name":"Hall-Riggs-Syndrom","definition":"Das Hall-Riggs-Syndrom ist sehr selten und gekennzeichnet durch Mikrozephalie mit fazialen Dysmorphien, mit spondylo-meta-epiphysärer Dysplasie und schwerem intellektuellen Defizit."},"es":{"name":"Síndrome de Hall-Riggs","definition":"El Síndrome de Hall-Riggs es un síndrome muy raro consistente en microcefalia con dimorfismo facial, displasia espondilo-metaepifisial y déficit intelectual grave."},"it":{"name":"Sindrome di Hall-Riggs"},"nl":{"name":"Syndroom van Hall-Riggs","definition":"Een zeer zeldzaam syndroom, gekenmerkt door microcefalie met faciale dysmorfie, spondylometa-epifysaire dysplasie, en ernstige intellectuele achterstand."},"pt":{"name":"Síndrome Hall-Riggs","definition":"A síndrome de Hall-Riggs é uma síndrome muito rara que consiste em microcefalia com dismorfismo facial, displasia espondilometaepifisária e défice cognitivo grave."},"pl":{"name":"Zespół Halla i Riggsa"},"cs":{"name":"Hallův-Riggsův syndrom","synonyms":["Hall-Riggsův syndrom"]},"uk":{"name":"Синдром Холла-Ріггса","definition":"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit."},"zh":{"name":"Hall-Riggs综合征"},"tr":{"name":"Hall-Riggs sendromu"}},"xrefs":[{"source":"OMIM","code":"234250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009320","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856198","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2586","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":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"11185076[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11185076[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002217","label":"Slow-growing hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null}]}}