Kagami-Ogata syndrome
Synonyms: KOS
Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly) fetal macrosomia abdominal wall defects skeletal abnormalities (including bell-shaped thorax coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy) feeding difficulties and impaired swallowing dysmorphic features (hairy forehead full cheeks protruding philtrum micrognathia) developmental delay and intellectual disability. Additional features may include kyphoskoliosis joint contractures diastasis recti muscular hypotonia. There is increased risk of hepatoblastoma.
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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Kagami-Ogata syndrome?
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Advocacy Organizations
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.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.