Temple syndrome

The symptoms of this syndrome are: Very frequent • Hypotonia • Motor delay • Precocious puberty • Small hand • Short foot • Intrauterine Growth Restriction Frequent • Delayed speech • Feeding difficulties • Mild intellectual disability • Obesity • Premature birth • Short stature Occasional • Undescended testis • Polyphagia • Scoliosis • Type II diabetes Very rare • Bifid uvula • Clinodactyly • Frontal bossing • Hydrocephalus • Pointed chin • Recurrent hypoglycaemia == Cause ==

There are three main mechanisms that can cause Temple syndrome: The genes on Paternal Chromosome 14 gets hypomethylated and subsequently causes silencing of those genes. • Deletion of the 14q32.2 region (in 5-15% cases): Cases when 14q32.2 region gets deleted is the rarest. In that case part of Paternal chromosome 14 gets deleted. The genes which mutations are responsible for causing this syndrome are DLK1 and RTL1. DIO3 mutation is also associated with Temple syndrome. == Diagnosis ==

Temple syndrome can be suspected by combination of symptoms and diagnosis confirmed through genetic testing. == Treatment ==

There is no cure for this disease, but symptomatic management is available. == Prognosis ==

The prognosis of this disease is unclarified. == History ==

Temple Syndrome was first described by I K Temple in 1991. == References ==