raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:254519

Kagami-Ogata syndrome

Synonyms: KOS

Type
Malformation syndrome
Group
Disorder
Inheritance
Autosomal dominant, Not applicable
Age of onset
Antenatal, Infancy, Neonatal
Status
active

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.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enKagami-Ogata syndromeKOS
frSyndrome de Kagami-Ogata= en
deKagami-Ogata-Syndrom= en
esSíndrome de Kagami-Ogata= en
itSindrome di Kagami-OgataMCA da difetto di espressione dei geni materni in 14q32.2
nlSyndroom van Kagami-Ogata= en
ptAnomalias congénitas múltiplas por anomalia nos genes de expressão materna localizados em 14q32.2MCA por anomalia nos genes de expressão materna localizados em 14q32.2
plMnogie wady wrodzone z powodu ekspresji matczynego wadliwego genu 14q32.2MCA z powodu ekspresji matczynego wadliwego genu 14q32.2
csMnohočetné vrozené anomálie způsobené defektem maternální exprese 14q32.2MCA způsobená maternálně vyjádřeným defektem genu 14q32.2
ukСиндром Кагамі-ОгатаКОС
zhKagami-Ogata综合征= en
trKagami-Ogata sendromu= en

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM608149Evalidated
ICD-10Q87.8NTBTattributedvalidated
MONDO0016779Evalidated
MONDO16779Evalidated
UMLSC5779872Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (3):

Children (3):

4

Genes

0 direct · 9 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

GeneSubtypeAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
DLK1ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14Role in the phenotype ofAssessedHGNC:2907ENSG0000018555917629014q32.2delta like non-canonical Notch ligand 118176563[PMID]
DLK1ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionRole in the phenotype ofAssessedHGNC:2907ENSG0000018555917629014q32.2delta like non-canonical Notch ligand 118176563[PMID]
DLK1ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationRole in the phenotype ofAssessedHGNC:2907ENSG0000018555917629014q32.2delta like non-canonical Notch ligand 118176563[PMID]
MEG3ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14Role in the phenotype ofAssessedHGNC:14575ENSG0000021454860563614q32.2maternally expressed 318176563[PMID]_24801763[PMID]
MEG3ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionRole in the phenotype ofAssessedHGNC:14575ENSG0000021454860563614q32.2maternally expressed 318176563[PMID]_24801763[PMID]
MEG3ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationRole in the phenotype ofAssessedHGNC:14575ENSG0000021454860563614q32.2maternally expressed 318176563[PMID]_24801763[PMID]
RTL1ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14Role in the phenotype ofAssessedHGNC:14665ENSG0000025465661189614q32.2retrotransposon Gag like 118176563[PMID]
RTL1ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionRole in the phenotype ofAssessedHGNC:14665ENSG0000025465661189614q32.2retrotransposon Gag like 118176563[PMID]
RTL1ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationRole in the phenotype ofAssessedHGNC:14665ENSG0000025465661189614q32.2retrotransposon Gag like 118176563[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families84 casesWorldwideCase(s)Validated28640239[PMID]
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET_28640239[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

40 annotations · validated 2019-10-03
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0000463Anteverted nares
HP:0001591Bell-shaped thorax
HP:0000289Broad philtrum
HP:0006665Coat hanger sign of ribs
HP:0025336Delayed ability to sit
HP:0005280Depressed nasal bridge
HP:0002015Dysphagia
HP:0011968Feeding difficulties
HP:0000293Full cheeks
HP:0001263Global developmental delay
HP:0001249Intellectual disability
HP:0006267Large placenta
HP:0001376Limitation of joint mobility
HP:0000347Micrognathia
HP:0001561Polyhydramnios
HP:0002421Poor head control
HP:0002033Poor suck
HP:0004887Respiratory failure requiring assisted ventilation
HP:0000470Short neck
HP:0005257Thoracic hypoplasia
HP:0000465Webbed neck
Frequent (79-30%)
HP:0000581Blepharophimosis
HP:0002019Constipation
HP:0002673Coxa valga
HP:0001540Diastasis recti
HP:0002007Frontal bossing
HP:0011335Frontal hirsutism
HP:0002751Kyphoscoliosis
HP:0001520Large for gestational age
HP:0001601Laryngomalacia
HP:0001539Omphalocele
HP:0001622Premature birth
HP:0000205Pursed lips
Occasional (29-5%)
HP:0001626Abnormality of the cardiovascular system
HP:0002884Hepatoblastoma
HP:0000023Inguinal hernia
HP:0008551Microtia
HP:0001548Overgrowth
HP:0008897Postnatal growth retardation
Very rare (<4-1%)
HP:0001250Seizure

Run the differential on the 12 obligate / very frequent terms

Annotation source: 25689926[PMID]

7

Sources for this card