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.

Also known as: Kagami-Ogata syndrome, MCA due to 14q32.2 maternally expressed gene defect

1 clinical trial for this condition and its sub-types, 0 tagged with Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect itself.

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↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Multiple congenital anomalies due to 14q32.2 imprinting defect (2)

Sub-types of Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect

Paternal uniparental disomy of chromosome 14 1 trial
Maternal 14q32.2 hypermethylation syndrome 0 trials
Maternal 14q32.2 microdeletion syndrome 0 trials

Including sub-types (1) Tagged with Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect (0)

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