KBG syndrome (KBGS)

What is KBG syndrome (KBGS)?

KBG syndrome is a very rare genetic disorder. It is named from the initials of the first families diagnosed with the syndrome.

As a congenital malformation syndrome, distinctive facial features, facial dysmorphism, skeletal abnormalities, and intellectual disability are common symptoms of this rare disease.

Very often individuals with the syndrome are also diagnosed with autism spectrum disorder, hyperactivity and/or anxiety.

What gene changes cause KBG syndrome (KBGS)?

KBG syndrome occurs due to a mutation in the ANKRDII gene. It is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

However, due to the documentation of more severe male cases, an X-linked inheritance has also been suggested.


Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.


With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene, causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosomes males have. Males tend to have more severe symptoms than females.

What are the main symptoms of KBG syndrome (KBGS)?

The main symptoms of KBG syndrome may vary between individuals and may also vary in the extent of their severity.

The syndrome's typical facial characteristics include a triangular face, upturned nose, widely spaced eyes, bushy eyebrows, a thin upper lip, and a large nasal bridge. Large teeth and particularly large upper front teeth are characteristic of the syndrome, as are dental abnormalities.

Other potential symptoms include skeletal and bone abnormalities, congenital heart defects, hearing loss, and seizures.

Intellectual disability and developmental delay are also common amongst individuals diagnosed with the syndrome.

How does someone get tested for KBG syndrome (KBGS)?

The initial testing for KBG syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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