Conditions / Syndrome

Kagami-Ogata syndrome

info ยท Syndrome

A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozy

A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32.

Signs and symptoms

  • Micrognathia
  • Long philtrum
  • Flexion contracture
  • Bell-shaped thorax
  • Blepharophimosis
  • Frontal hirsutism
  • Microtia
  • Retrognathia
  • Premature birth
  • Diastasis recti

Also known as: KOS