Roberts syndrome

By: Alex Dressendorfer

Discovery?

In 1995, Hugo Vega and Miriam Gordillo, two Colombian geneticists, set out to fully understand Roberts syndrome. Vega and Gordillo noticed an unusually high number of Roberts syndrome patients at the Universidad Nacional de Colombia. The two Colombian geneticists tracked down a total of seven families with Roberts syndrome just outside Bogota and discovered that four out of the seven families shared a common 18th century ancestor.


Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in half of all people with Roberts syndrome.


Approximately 150 people have been reportedly affect by Robert’s syndrome.

Signs/Symptom

· Growth delay before/after birth

· Small/broad head

· Abnormal grooves on both sides of upper lip

· Bilateral cleft lip and cleft palate

· Small/thin nostrils

· Low-set ears

· Malformed ears

· Benign, tumorous mass of blood vessels on midface, ears or forehead

· Cloudy corneas

· Absence of fingers

· Short/underdeveloped/absent forearm bone

· Mental retardation



Skeleton and organ systems are the affected body systems of Roberts syndrome.


Roberts syndrome is inherited through family history

Diagnosis & Treatment

Treatment: surgery for the cleft lip and palate, correction of limb abnormalities (also through surgery), and improvement in prehensile hand grasp development


Diagnosis: prenatal growth retardation, limb malformations, craniofacial abnormalities