Multiple congenital anomalies-hypotonia-seizures syndrome
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 April 2024
Newly diagnosed with
Multiple congenital anomalies-hypotonia-seizures syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
CDG Canada
CDG Canada supports patients and families affected by Congenital Disorders of Glycosylation (CDG).
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
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
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.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.