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 http: //www.orphadata.org. Data version September 2023.

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Advocacy Organizations

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 CARE

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).

Clinical Trials

For a list of clinical trials in this disease area, please click here.