L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. [ Orphanet:275543 ]
Synonyms: L1CAM syndrome CRASH syndrome corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome L1 syndrome
Term information
- NORD:1343 (MONDO:NORD)
- Orphanet:275543 (MONDO:equivalentTo)
- GARD:12524 (Orphanet:275543)
gard_rare, ordo_disease, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare