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 April 2026
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Kagami-Ogata syndrome?
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Advocacy Organizations
Ava Grace Foundation
The Ava Grace Foundation's mission is to support patients and families and to advance the research of UPD-14 (Uniparental Disomy of the 14th Chromosome) also known as Kagami-Ogata Syndrome. We also promote education and awareness of UPD-14 among medical professionals, caregivers, and the general population.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.