L1 syndrome

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L1 syndrome

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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Clinical Trials

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