Families

What is UBE3B-related disorder?
UBE3B-related disorder is a rare genetic condition that affects how the face and brain develop. It is often called Kaufman Oculocerebrofacial Syndrome (KOS), or sometimes Blepharophimosis-Ptosis-Intellectual Disability syndrome (BPID). It is caused by changes in both copies of a gene called UBE3B, which makes a protein that helps cells recycle other proteins at the right time, a process that is especially important while a baby's brain and face are forming before and shortly after birth.

How common is it?
This condition is very rare. Fewer than 50 children have been reported in medical literature worldwide since the gene was first linked to the disease in 2012. It has been described in families from many countries, including Egypt, Italy, Turkey, Germany, and the United States. It is more common in families where the parents are related to each other.

How is it inherited?
UBE3B-related disorder is inherited in an autosomal recessive manner. A child must inherit one faulty copy of the gene from each parent to be affected. Parents who each carry one faulty copy (carriers) do not have the condition themselves. There is a 1 in 4 chance (25%) that each child they have together could be affected. Genetic testing and counselling for your family are strongly recommended.