L1 syndrome

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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 June 2024

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L1 syndrome?

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Advocacy Organizations

National Organization for Disorders of the Corpus Callosum

The NODCC has become the leading organization for disorders of the corpus callosum seeking to raise the profile, understanding and acceptance of these disorders through education, networking, advocacy, and being a catalyst for research.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.