Temple syndrome

Temple syndrome (also known as maternal uniparental disomy of chromosome 14 syndrome, or UPD(14)mat syndrome) is a rare imprinting disorder caused by abnormal expression of imprinted genes in the chromosomal region 14q32. The condition can result from maternal uniparental disomy of chromosome 14 (where both copies of chromosome 14 are inherited from the mother), epimutations (loss of methylation) at the DLK1/MEG3 intergenic differentially methylated region (IG-DMR), or paternal deletions affecting the 14q32 imprinted region. These mechanisms lead to overexpression of maternally expressed genes (such as MEG3, MEG8, and RTL1as) and loss of expression of paternally expressed genes (such as DLK1 and RTL1). Key clinical features include prenatal and postnatal growth restriction, low birth weight, hypotonia (reduced muscle tone) in infancy, early-onset puberty (precocious or early puberty), small hands and feet, truncal obesity, and mild to moderate intellectual disability or learning difficulties in some patients. Feeding difficulties are common in infancy due to hypotonia. Motor developmental milestones may be delayed. The clinical presentation shares some overlap with Prader-Willi syndrome, particularly the neonatal hypotonia and feeding difficulties, which can sometimes lead to initial misdiagnosis. There is currently no cure for Temple syndrome, and management is supportive and symptom-based. Treatment may include nutritional support during infancy for feeding difficulties, growth hormone therapy to address short stature, monitoring and management of precocious puberty with GnRH analogs if indicated, and educational support for learning difficulties. Regular endocrinological follow-up is important given the tendency toward early puberty and metabolic complications related to obesity. A multidisciplinary approach involving pediatric endocrinology, genetics, and developmental specialists is recommended for optimal care.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Temple syndrome