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Multiple congenital anomalies due to 14q32.2 imprinting defect

MONDO:0100499

Multiple congenital anomalies caused by imprinting defects at 14q32.2 include Kagami-Ogata syndrome and Temple syndrome. Kagami-Ogata syndrome is characterized by typical facial features, skeletal abnormalities (including "coat-hanger ribs", and bell-shaped thorax), abdominal wall defects, and developmental delay, and is caused by defects or absence of maternally derived imprinting signals (including paternal UPD14). Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).

6 clinical trials for this condition and its sub-types.

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Sub-types

Multiple congenital anomalies due to 14q32.2 paternally expressed gene defect (2) Paternal uniparental disomy of chromosome 14 (1) Maternal 14q32.2 hypermethylation syndrome (0) Maternal 14q32.2 microdeletion syndrome (0) Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect (0)

Broader categories

Disease (618) Human disease (14) Developmental defect during embryogenesis (7) Multiple congenital anomalies/dysmorphic syndrome (1) Disease by developmental or physiological process (0) Disorder of development or morphogenesis (0)
Trials to join now! 3 Not yet recruiting 1 Completed 2
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