| dbo:abstract |
Acro-oto-radial syndrome, also known as Pseudopapilledema blepharophimosis hand anomalies syndrome is a very rare hereditary disorder which is characterized by pseudopapilledema, hearing loss, cranio-facial dysmorphisms and hand/foot anomalies. Unlike other genetic syndromes, people with this syndrome don't exhibit intellectual disabilities. Only 4 cases have been reported in medical literature. (en) |
| dbo:alias |
Pseudopallidema blepharophimosis hand anomalies syndrome (en) |
| dbo:thumbnail |
wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300 |
| dbo:wikiPageID |
70926462 (xsd:integer) |
| dbo:wikiPageLength |
4486 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1117556302 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbc:Rare_genetic_syndromes dbc:Syndromes_with_microcephaly dbr:Brachydactyly dbr:Consanguinity dbr:Hallux_varus dbr:Medical_genetics dbr:Hearing_loss dbc:Hearing_loss_with_craniofacial_syndromes dbr:Syndactyly dbr:Microcephaly dbr:Micrognathia dbr:Intellectual_disabilities dbr:Palpebral_fissure dbr:Pseudopapilledema dbr:Bahia,_Brazil |
| dbp:deaths |
- (en) |
| dbp:frequency |
very rare, only 4 cases have been reported in medical literature. (en) |
| dbp:name |
Acro-oto radial syndrome (en) |
| dbp:prevention |
none (en) |
| dbp:prognosis |
Medium to Good (en) |
| dbp:specialty |
dbr:Medical_genetics |
| dbp:synonyms |
Pseudopallidema blepharophimosis hand anomalies syndrome (en) |
| dbp:wikiPageUsesTemplate |
dbt:Reflist dbt:Infobox_medical_condition |
| dcterms:subject |
dbc:Rare_genetic_syndromes dbc:Syndromes_with_microcephaly dbc:Hearing_loss_with_craniofacial_syndromes |
| rdf:type |
owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment |
Acro-oto-radial syndrome, also known as Pseudopapilledema blepharophimosis hand anomalies syndrome is a very rare hereditary disorder which is characterized by pseudopapilledema, hearing loss, cranio-facial dysmorphisms and hand/foot anomalies. Unlike other genetic syndromes, people with this syndrome don't exhibit intellectual disabilities. Only 4 cases have been reported in medical literature. (en) |
| rdfs:label |
Acro-oto-radial syndrome (en) |
| owl:sameAs |
wikidata:Acro-oto-radial syndrome https://global.dbpedia.org/id/DL8ek |
| prov:wasDerivedFrom |
wikipedia-en:Acro-oto-radial_syndrome?oldid=1117556302&ns=0 |
| foaf:depiction |
wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg |
| foaf:isPrimaryTopicOf |
wikipedia-en:Acro-oto-radial_syndrome |
| is foaf:primaryTopic of |
wikipedia-en:Acro-oto-radial_syndrome |
