multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
Findings
No curated finding names multiple congenital anomalies due to 14q32.2 maternally expressed gene defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016779), read 2026-09-29. CC BY 4.0.
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Bell-shaped thoraxHPOHP:0001591
- Very frequent (80% to 99% of cases)
- Broad philtrumHPOHP:0000289
- Very frequent (80% to 99% of cases)
- Coat hanger sign of ribsHPOHP:0006665
- Very frequent (80% to 99% of cases)
- Delayed ability to sitHPOHP:0025336
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
Show the remaining 28
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- Very frequent (80% to 99% of cases)
- Poor head controlHPOHP:0002421
- Very frequent (80% to 99% of cases)
- Poor suckHPOHP:0002033
- Very frequent (80% to 99% of cases)
- Respiratory failure requiring assisted ventilationHPOHP:0004887
- Very frequent (80% to 99% of cases)
Where it sits
Other names
2 names
Resolves to: multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
- Also called
- Kagami-Ogata syndromeMCA due to 14q32.2 maternally expressed gene defect