Temple syndrome due to paternal 14q32.2 microdeletion

Temple syndrome due to paternal 14q32.2 microdeletion (also known as Temple syndrome, TS14, or maternal uniparental disomy of chromosome 14 phenotype) is a rare imprinting disorder caused by a small deletion on the paternal copy of chromosome 14 in the 14q32.2 region. This microdeletion removes paternally expressed imprinted genes, including DLK1 and RTL1, leading to loss of their expression and unopposed expression of maternally expressed genes such as MEG3, MEG8, and RTL1as. The condition can also arise through maternal uniparental disomy 14 or epimutation, but this specific subtype is caused by a paternal microdeletion. Temple syndrome primarily affects growth, development, and metabolism. Key clinical features include prenatal and postnatal growth restriction with short stature, low birth weight, neonatal hypotonia (reduced muscle tone), feeding difficulties in infancy, early onset of puberty (precocious or early puberty), truncal obesity, and small hands and feet. Motor developmental milestones may be mildly delayed, and some patients exhibit mild intellectual disability or learning difficulties, though cognitive function is often within the normal range. Facial features may include a broad forehead and a short nose with a wide nasal tip. The condition shares some clinical overlap with Prader-Willi syndrome, particularly in the neonatal period due to hypotonia and feeding problems. There is currently no cure for Temple syndrome. Management is supportive and symptom-based, and may include growth hormone therapy to address short stature, nutritional support during infancy, monitoring and management of early puberty with GnRH analogs if indicated, and educational support for any learning difficulties. Regular endocrinological follow-up is recommended to monitor growth, pubertal development, and metabolic parameters including obesity management.

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