X-linked hydrocephalus syndrome

Common Name(s)

X-linked hydrocephalus syndrome

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 ({24:Rosenthal et al., 1992}). See HYC1 ({236600}) for a discussion of nonsyndromic autosomal recessive forms of hydrocephalus.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked hydrocephalus syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "X-linked hydrocephalus syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.
 

Author(s): S T Holden, J J Cox, I Kesterton, N S Thomas, C Carr, C G Woods

Journal: J. Med. Genet.. 2006 Sep;43(9):750-4.

 

The VACTERL with hydrocephalus (VACTERL-H) phenotype is recognised to be a severe manifestation of autosomal recessive Fanconi anaemia. Several families have been described in which the VACTERL-H phenotype segregates as an X linked syndrome. The mutations which cause X linked VACTERL-H ...

Last Updated: 4 Sep 2006

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New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.
 

Author(s): M Jouet, A Moncla, J Paterson, C McKeown, A Fryer, N Carpenter, E Holmberg, C Wadelius, S Kenwrick

Journal: Am. J. Hum. Genet.. 1995 Jun;56(6):1304-14.

 

The neural cell-adhesion molecule L1 is involved in intercellular recognition and neuronal migration in the CNS. Recently, we have shown that mutations in the gene encoding L1 are responsible for three related disorders; X-linked hydrocephalus, MASA (mental retardation, aphasia, shuffling ...

Last Updated: 28 Jun 1995

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MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.
 

Author(s): C Schrander-Stumpel, J Fryns, J J Cassiman, E Legius, A Spaepen, C J Höweler

Journal: J. Med. Genet.. 1992 Mar;29(3):215.

 

Last Updated: 28 Apr 1992

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "X-linked hydrocephalus syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

X linked hydrocephalus and MASA syndrome.
 

Author(s): S Kenwrick, M Jouet, D Donnai

Journal: J. Med. Genet.. 1996 Jan;33(1):59-65.

 

X linked hydrocephalus and MASA syndrome are clinically related, neurological disorders with an X linked recessive mode of inheritance. Although originally described as distinct entities, their similarity has become apparent as the number of reported families has increased and a high ...

Last Updated: 5 Dec 1996

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