Roberts syndrome

What is Roberts syndrome?

It is a rare genetic syndrome. The syndrome is distinguished by growth delays (both before and after birth), as well as abnormalities affecting the limbs of the body (arms and legs) and abnormalities affecting the skull and face. The symptoms of the syndrome are similar to those that present with Cornelia de Lange syndrome and Holt-Oram syndrome.

What gene changes cause Roberts syndrome?

Mutations in the ESCO2 gene are responsible for the syndrome.

It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Roberts syndrome?

The symptoms may vary between affected individuals. It is not uncommon for infants with the syndrome to present with life-threatening complications shortly after birth.

Growth delay, before and after birth, are common with the syndrome.

Abnormalities affecting the limbs include underdeveloped bones. In severe cases bones may be missing in all four limbs- arms and legs. Generally this abnormality affects the arms more severely than the legs. Other issues affecting the limbs include contractures, or a permanent fixture of the joints- specifically the knees and elbows. Some individuals may also have missing digits, specifically missing fingers. Webbing of the fingers and toes is common, as is club foot (specifically the type where the heel is raised and faces outwards from the body).

Abnormalities affecting the skull and face are varied. Unique facial features of the syndrome include a small and wide head, a cleft lip which also sometimes includes a cleft palate, a small jaw, sparse and silvery hair, and low-set ears that may develop without lobes. Widely spaced eyes, very small eyes, cloudy corneas and prominent eyes are also common with the syndrome. In some affected individuals, the whites of the eyes are blue.
Patches of pink or dark red on the skin due to collections of small blood vessels may also present with the syndrome.
In some individuals genital abnormalities are present with the syndrome.

How does someone get tested for Roberts syndrome?

The initial testing for Roberts 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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