Multiple congenital anomalies-hypotonia-seizures syndrome type 2

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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Advocacy Organizations


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.

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.

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Clinical Trials

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