Alternative titles and symbols : Hydrocephalus, X-linked; Aqueductal stenosis, X-linked; HSAS1; HSAS; XLAS; Hydrocephalus due to congenital stenosis of aqueduct of sylvius;
Description : The X-linked recessive form of congenital hydrocephalus (HSAS) is the most common
of the inherited forms of hydrocephalus. The phenotype consists of enlarged cerebral
ventricles and mental retardation, and often includes spastic paraparesis and adducted
thumbs. The most severe cases die pre- or perinatally with gross hydrocephalus and
enlarged head circumference (Rosenthal et al., 1992). See HYC1 (236600) for a discussion
of nonsyndromic autosomal recessive forms of hydrocephalus.;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the L1 cell adhesion molecule gene (L1CAM, 308840.0001);