Temple syndrome
Rare genetic disorder from chromosome 14 imprinting abnormalities.
Temple syndrome is a rare genetic disorder first described by I K Temple in 1991. It is caused by abnormalities of maternal chromosome 14 (maternal uniparental disomy) or by paternal deletions or epimutations affecting the 14q32.2 imprinted region, leading to a range of developmental and physical symptoms.
Quick Facts
- Synonym
- TS, TS14
- Specialty
- Medical genetics
- Symptoms
- Hypotonia, motor delay, precocious puberty, small hands, short feet, intrauterine growth restriction
- Causes
- Chromosomal nondisjunction, genetic mutations
- Diagnosis
- Genetic testing
- Differential
- Prader-Willi Syndrome, Silver–Russell syndrome
Facts from the source article.
Lore & Background
Temple syndrome is caused by three main mechanisms: maternal uniparental disomy of chromosome 14 (in 60-75% of cases), epimutation (in 10-20% of cases), and deletion of the 14q32.2 region (in 5-15% of cases). Maternal UPD(14) typically results from trisomy rescue (loss of one paternal chromosome from a trisomic zygote) or from monosomy rescue, not from nondisjunction in the oocyte leading to trisomy that is 'usually fatal'. Epimutation involves hypomethylation of genes on paternal chromosome 14, silencing them without changing the coding sequence.
Reader's Guide
Temple syndrome presents with a wide range of symptoms, including very frequent signs such as hypotonia, motor delay, precocious puberty, small hand, short foot, and intrauterine growth restriction. Frequent symptoms include delayed speech, feeding difficulties, obesity, premature birth, and short stature. Occasional symptoms include undescended testis, polyphagia, scoliosis, and type II diabetes. Very rare symptoms include bifid uvula, clinodactyly, frontal bossing, hydrocephalus, pointed chin, and recurrent hypoglycaemia. Diagnosis is suspected by symptom combination and confirmed through genetic testing. There is no cure, but symptomatic management is available. The prognosis remains unclarified.
Did You Know?
- Maternal uniparental disomy of chromosome 14 causes 60-75% of cases.
- Loss of expression of paternally expressed genes in the 14q32.2 region, including DLK1 and RTL1, is responsible for causing Temple syndrome.
- There is no cure for Temple syndrome, only symptomatic management.
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