multiple congenital anomalies due to 14q32.2 paternally expressed gene defect

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).

Therapeutic area

Rare Disease

Rarity

Rare

Prevalence

~100k patients (est.)

MONDO

MONDO:0100507