Multiple congenital anomalies-hypotonia-seizures syndrome

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Synonyms: Congenital disorder of glycosylation due to PIGN deficiency | PIGN-CDG

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay hypotonia and early-onset seizures associated with multiple congenital anomalies such as cardiac (e.g. patent foramen ovale atrial septal defect patent ductus arteriosus) genitourinary (i.e. hydrocele renal collecting system dilatation hydroureter hydronephrosis hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux anal stenosis imperforate anus ano-vestibular fistula) as well as facial dysmorphism which includes coarse facies a prominent occiput bitemporal narrowing epicanthal folds hypertelorism nystagmus/strabismus/wandering eyes low-set large ears with auricle abnormalities depressed nasal bridge upturned nose long philtrum large open mouth with thin lips high-arched palate and micro/retrognathia.

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 July 2024

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Advocacy Organizations

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.

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.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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