multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
MONDO:0016779
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.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
Recruiting studies by city
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Trial phase
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Investigated drug interventions
multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.