X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
Go to external page http://purl.obolibrary.org/obo/MONDO_0010611
A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis. [ MONDO:cjm https://rarediseases.info.nih.gov/diseases/434/hydrocephalus-due-to-congenital-stenosis-of-aqueduct-of-sylvius https://www.ncbi.nlm.nih.gov/books/NBK1484/ Orphanet:2182 ]
Synonyms: hydrocephalus with hirschsprung disease, X-linked recessive hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive X-linked hydrocephalus with stenosis of aqueduct of Sylvius hydrocephalus due to aqueductal stenosis, X-linked recessive X-linked acqueductal stenosis X-linked hydrocephalus with stenosis of the aqueduct of Sylvius X-linked hydrocephalus hydrocephalus with stenosis of the aqueduct of Sylvius HSAS X-linked HSAS Bickers-Adams syndrome
Term information
- Orphanet:2182 (OMIM:307000)
- MESH:C536078 (https://github.com/monarch-initiative/mondo/issues/2210)
- SCTID:71779008 (MONDO:equivalentTo)
- GARD:434 (Orphanet:2182)
- OMIM:307000 (Orphanet:2182/e)
gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare
http://identifiers.org/snomedct/71779008
http://www.orpha.net/ORDO/Orphanet_2182
http://identifiers.org/mesh/C536078
https://omim.org/entry/307000
aqueductal stenosis, X-linked
HYCX
hydrocephalus, X-linked
hydrocephalus due to congenital stenosis of aqueduct of Sylvius
HSAS1
hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction
XLAS