Temple syndrome
Temple syndrome is a rare genetic disorder that is caused by mutations in paternal chromosome 14 or by maternal UPD. The signs of this syndrome are oligohydramnios, intrauterine growth restriction, small placenta, low birth weight and length, hypotonia, motor and speech delay, joint laxity, clinodactyly, kyphoscoliosis, precocious puberty, obesity and the facial signs are: trigonocephaly, depressed nasal bridge, broad nose, small jaw, high-arched palate.
Symptoms
The symptoms of this syndrome are:Very frequent
- Hypotonia
- Motor delay
- Precocious puberty
- Small hand
- Short foot
- Intrauterine Growth Restriction
- Delayed speech
- Feeding difficulties
- Mild intellectual disability
- Obesity
- Premature birth
- Short stature
- Undescended testis
- Polyphagia
- Scoliosis
- Type II diabetes
- Bifid uvula
- Clinodactyly
- Frontal bossing
- Hydrocephalus
- Pointed chin
- Recurrent hypoglycaemia
Cause
- Maternal unipaternal disomy of chromosome 14 : That phenomenon can be caused by trisomy rescue. Maternal UPD arises from nondisjunction in oocyte and causes trisomy when it gets fertilised, there will be 3 chromosomes which is fatal most of the times, so one of the chromosome gets lost and it can get two results: biparental contribution of chromosome or maternal heterodisomy. Last one can cause Temple Syndrome.
- Epimutaion : Epimutation is a phenomenon when DNA gets mutated although it doesn’t change coding sequence. The genes on Paternal Chromosome 14 gets hypomethylated and subsequently causes silencing of those genes.
- Deletion of the 14q32.2 region : Cases when 14q32.2 region gets deleted is the rarest. In that case part of Paternal chromosome 14 gets deleted.