Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Synonyms: MCAHS type 2
A rare genetic lethal neurometabolic malformation syndrome characterized by multiple variable congenital cardiac (systolic murmur atrial septal defect) urinary (duplicated collecting system vesicoureteral reflux) and central nervous system (thin corpus callosum cerebellar hypoplasia) malformations associated with neonatal hypotonia early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput enlarged fontanel fused metopic suture upslanted palpebral fissures overfolded helix depressed nasal bridge anteverted nose malar flattening microstomy with downturned corners Pierre-Robin sequence high arched palate short neck) and other manifestations (joint contractures hyperreflexia dysplastic nails developmental delay) are also observed.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Multiple congenital anomalies-hypotonia-seizures syndrome type 2?
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Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
CDG Canada supports patients and families affected by Congenital Disorders of Glycosylation (CDG).
Moonshots for Unicorns
Curing single-gene disorders
Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Genetic Epilepsy Team Australia
Collaboration of research and care
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.