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Review

Kagami-Ogata Syndrome

Tsutomu Ogata  1 , Masayo Kagami  2
Margaret P Adam, Sarah Bick, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
.
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Review

Kagami-Ogata Syndrome

Tsutomu Ogata et al.
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Excerpt

Clinical characteristics: Kagami-Ogata syndrome is characterized by developmental delay, intellectual disability, feeding difficulty with impaired swallowing, full cheeks, 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.

Diagnosis/testing: The diagnosis of Kagami-Ogata syndrome is established in a proband with suggestive findings and findings on molecular genetic testing that suggest deficient expression of the RTL1 antisense (RTL1as) allele of maternal origin due to one of the following: paternal uniparental disomy of chromosome 14; epimutation (hypermethylation) affecting the normally unmethylated MEG3/DLK1 intergenic differentially methylated region (MEG3/DLK1:IG-DMR) and MEG3 transcription start site DMR (MEG3:TSS-DMR) on the maternal allele; deletion of the maternally inherited 14q32.2 region that includes MEG3/DLK1:IG-DMR and/or MEG3:TSS-DMR, and may include RTL1as; deletion of the maternally inherited RTL1as but not MEG3/DLK1:IG-DMR or MEG3:TSS-DMR; translocation (or inversion) disrupting the integrity between the maternally inherited MEG3 promoter at the MEG3:TSS-DMR and RTL1as.

Management: Treatment of manifestations: Developmental and educational support; mechanical ventilation and oxygen therapy as needed after birth; tracheostomy as required; monitor and treat upper and lower respiratory tract infections; treatment of scoliosis per orthopedist; treatment of joint contractures per rehabilitation medicine specialist; tube feeding typically required for poor weight gain; gastrostomy tube feeding as needed; feeding training; treatment of cardiac disease per cardiologist; standard treatment of hepatoblastoma with surgery and chemotherapy; social work and family support.

Surveillance: Monitor developmental progress, educational needs, for evidence of aspiration or respiratory insufficiency, progression of kyphoscoliosis and joint contractures, nutritional status, safety of oral intake, constipation, and family and care coordination needs at each visit. Echocardiogram annually; abdominal ultrasound and serum alpha-fetoprotein every three months until age three to four years.

Agents/circumstances to avoid: Avoid exposure to respiratory infections; individuals with Kagami-Ogata syndrome may develop respiratory failure with respiratory infections, especially during infancy.

Genetic counseling: The recurrence risk of Kagami-Ogata syndrome is dependent on the genetic mechanism underlying deficient expression of the maternal RTL1as allele in the proband. In most affected individuals, the underlying genetic mechanism occurs as a de novo event and the recurrence risk to sibs is not increased. Less commonly, a parent of a proband has a predisposing genetic alteration associated with an increased recurrence risk to sibs. Recurrence of Kagami-Ogata syndrome has been reported in sibs with maternally derived deletions. If a deletion or translocation involving the chromosome 14q32.2 imprinted region has been identified in the proband, prenatal testing and preimplantation genetic testing are possible. Methylation testing of fetal DNA to examine abnormal methylation patterns of the DMRs (MEG3/DLK1:IG-DMR and MEG3:TSS-DMR) is not recommended; while DNA extracted from amniotic fluid is currently believed to provide the most reliable tissue source for evaluating fetal methylation status, false negative findings have been reported.

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References

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