Roberts Syndrome

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Description

Roberts Syndrome, also known as SC phocomelia, is a rare genetic disorder that affects the development of bones and other tissues in the body. Individuals with Roberts Syndrome often have distinctive features including dwarfism, limb abnormalities, and characteristic facial features. This blog post provides comprehensive information about Roberts Syndrome, including its causes, symptoms, diagnosis, management, and resources for support and thriving.

Genes Involved

Genes Involved in Roberts Syndrome:

Roberts Syndrome is caused by mutations in either the ESCO2 or RBM8A gene. These genes are involved in the process of DNA replication and repair. Mutations in these genes disrupt normal cell division and development, leading to the characteristic features of Roberts Syndrome.

Recognizing the Signs and Symptoms

Recognizing the Signs and Symptoms of Roberts Syndrome:

• Dwarfism: Individuals with Roberts Syndrome are typically small in stature with short limbs.
• Limb Abnormalities: This can range from missing fingers and toes to complete absence of arms or legs.
• Characteristic Facial Features: These may include a small, upturned nose, a wide-set eyes, a prominent forehead, and a cleft palate.
• Delayed Development: Cognitive development may be affected, and individuals may experience delays in motor skills and speech development.
• Other Potential Features: Additional characteristics may include heart defects, genitourinary abnormalities, and other developmental issues.

Causes

Causes of Roberts Syndrome:

Roberts Syndrome is caused by a genetic mutation, meaning it is passed down from parents to their children. Both parents must carry a copy of the mutated gene for their child to have Roberts Syndrome. It is a rare disorder, and the exact cause of the mutations is still being studied.

Inheritance/recurrence risk

Inheritance or Recurrence Risk:

Roberts Syndrome is inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to inherit the disorder. If both parents are carriers, there is a 25% chance with each pregnancy that their child will have Roberts Syndrome. It is important to note that if the parents do not have Roberts Syndrome themselves, it is unlikely that they will have another child with the condition.