Clinical Guidance
Kagami-Ogata syndrome is characterized by developmental delay, intellectual disability, feeding difficulty, full cheeks and prominent and deep philtrum, small bell-shaped thorax with coat-hanger appearance of the ribs, and abdominal wall defects (omphalocele and diastasis recti). Additional common features include joint contractures, kyphoscoliosis, coxa valga, and laryngomalacia. Cardiac disease and hepatoblastoma have also been reported . To date, approximately 100 individuals have been diagnosed with Kagami-Ogata syndrome [; ; ; T Ogata M Kagami, unpublished observations]. Table 2. Kagami-Ogata Syndrome: Frequency of Select Features
Feature | % of Persons w/Feature1 | Comment |
|---|
Pregnancy delivery | Polyhydramnios | 95% |
Placentomegaly | ~85% | Placenta size 120% of normal |
Development cognition | Developmental delay | 95% |
Intellectual disability | 100% | — |
Nutrition growth | Feeding difficulty | 95% |
Prenatal overgrowth | 50% | Birth length /or weight 2 SD above mean |
Postnatal growth deficiency | ~35% | Height /or weight 2 SD below mean |
Craniofacial features | Full cheeks prominent deep philtrum (most common specific features) | 90%-95% |
Skeletal abnormalities | Small bell-shaped thorax | 100% |
Coat-hanger appearance of ribs | 100% | — |
Joint contractures | 60%-65% | — |
Kyphoscoliosis | ~40% | — |
Coxa valga | ~33% | — |
Respiratory | Laryngomalacia | ~40% |
Abdominal wall defects | Diastasis recti | 65%-70% |
Omphalocele | ~30% | — |
Other features | Cardiac disease | 25% |
Hepatoblastoma | 5%-10% | SD = standard deviations 1. Pregnancy and delivery. Polyhydramnios is typically identified in the second trimester at a median gestational age of 25. |
Source: GeneReviews — "Kagami-Ogata Syndrome"
