Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Synonyms: Congenital disorder of glycosylation due to PIGT deficiency | MCAHS type 3 | Multiple congenital anomalies-hypotonia-seizures syndrome type 3 | PIGT-CDG
A rare congenital disorder of glycosylation characterized by neonatal hypotonia global development delay developmental regress and severe to profound intellectual disability infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures impaired vision with esotropia and nystagmus progressive cerebral and cerebellar atrophy skeletal abnormalities (including brachycephaly scoliosis slender long bones delayed bone age pectus excavatum and osteopenia) inverted nipples and dysmorphic features including high and narrow forehead frontal bossing short nose depressed nasal bridge anteverted nares high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus atrial septal defects) urogenital abnormalities (such as nephrocalcinosis urolithiasis) and low plasma concentration of alkaline phosphatase.
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.
Newly diagnosed with
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
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.
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.
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.