Synonyms: CRASH syndrome | Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome | L1CAM syndrome
A rare 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
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