Genetic condition awaiting consideration - Sanjad Sakati syndrome
Sanjad-Sakati syndrome is a rare genetic disorder that results in severe disability and shortened life expectancy. Affected individuals are typically affected with hypoparathyroidism (deficiency of parathyroid hormone), intellectual disability, seizures (fits) and delayed growth.
They also have a characteristic face which is unusual in that affected children have a “beaked” nose, small jaw, prominent forehead, deep set eyes and depressed nasal bridge and are prone to having recurrent infections.
Mutations in the TBCE gene cause Sanjad-Sakati syndrome.
It is inherited in an autosomal recessive manner, meaning that if both parents are healthy ‘carriers’ of a mutation, each pregnancy has a 1 in 4 chance of being affected.
There is no cure for Sanjad-Sakati syndrome and treatment of symptoms is limited. Life expectancy is significantly shortened.
Have your say on conditions awaiting consideration
If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email: pgd@hfea.gov.uk
Page last updated: 15 July 2010