Multiple congenital anomalies-hypotonia-seizures syndrome 2

Common Name(s)

Multiple congenital anomalies-hypotonia-seizures syndrome 2

Multiple congenital anomalies-hypotonia-seizures syndrome-2 is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by {5:Johnston et al., 2012}). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability (summary by {1:Belet et al., 2014}, {6:Kato et al., 2014}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 ({614080}); for a discussion of genetic heterogeneity of EIEE, see {308350}; and for a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multiple congenital anomalies-hypotonia-seizures syndrome 2" for support, advocacy or research.

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Zellweger Baby Support Network

This organization was started by a small group of parents whose lives have been affected in some way by a rare disorder. Our gift, in honor of our children, was to start this site, so we can help families and to raise awareness of these rare disorders. If your child has been diagnosed with Zellweger syndrome, a peroxisomal disorder or another rare disorder, we are here to help you. You are not alone! Our mission is to promote, advance, and improve awareness of Zellweger syndrome and other peroxisomal disorders, to assist, support, and aid, financially or otherwise, individuals and families affected by Zellweger syndrome. We will help you learn more about these disorders. We will provide emotional support, and we can help you to create a journal site for your child so that family and friends can be kept up to date on your child. We will pray with you and for you as you journey through life with your special angel. We know this is a hard time for you; you want answers, informa

Last Updated: 20 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multiple congenital anomalies-hypotonia-seizures syndrome 2" for support, advocacy or research.

Logo
Zellweger Baby Support Network

This organization was started by a small group of parents whose lives have been affected in some way by a rare disorder. Our gift, in honor of our children, was to start this site, so we can help families and to raise awareness of these rare disorders. If your child has been diagnosed with Zellweger syndrome, a peroxisomal disorder or another rare disorder, we are here to help you. You are not alone! Our mission is to promote, advance, and improve awareness of Zellweger syndrome and other peroxisomal disorders, to assist, support, and aid, financially or otherwise, individuals and families affected by Zellweger syndrome. We will help you learn more about these disorders. We will provide emotional support, and we can help you to create a journal site for your child so that family and friends can be kept up to date on your child. We will pray with you and for you as you journey through life with your special angel. We know this is a hard time for you; you want answers, informa

http://www.zbsn.org

Last Updated: 20 Feb 2013

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General Support Organizations

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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 "Multiple congenital anomalies-hypotonia-seizures syndrome 2" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Multiple congenital anomalies-hypotonia-seizures syndrome 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.