Kagami-Ogata syndrome is a rare genetic disease caused by mutations affecting the maternal copy of chromosome 14 or by paternal uniparental disomy of chromosome 14. Its main features include an excess of amniotic fluid before birth, a narrow bell-shaped chest, ribs described as coat-hanger shaped, a defect of the abdominal wall, and an enlarged placenta, along with a distinctive facial appearance that can include a prominent forehead, excess hair growth on the forehead, a flattened nasal bridge, a small or receding lower jaw, full cheeks, a webbed neck, and a protruding groove above the upper lip.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Sources
1. Wikipedia: Kagami-Ogata syndrome
WikipediaLead section, body-system statementQuote, Lead section, body-system statement
The main signs of this disease are: polyhydramnios, narrow bell-shaped thorax, coat-hanger-like ribs, abdominal wall defect, enlarged placenta.
2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVIIQuote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
3. Wikipedia: Non-communicable disease
WikipediaLead section, transmission-route statement (inferred from disease-category)
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
Inherited/genetic diseases section
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
View the Source 4. Kagami-Ogata syndrome (Wikipedia)
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