Roberts Syndrome: Symptoms, Causes, and Treatments

Roberts Syndrome is a rare genetic disorder that affects physical development, causing limb and facial abnormalities, growth delays, and sometimes intellectual disabilities. Also known as Roberts SC Phocomelia Syndrome, it follows an autosomal recessive inheritance pattern, requiring a child to inherit two copies of the mutated ESCO2 gene, one from each parent.

This gene is essential for proper cell division, and its mutation leads to errors that cause developmental defects. First described by Dr. John Roberts in 1919, the syndrome is extremely rare, affecting fewer than 1 in 100,000 births. Since Roberts syndrome carrier parents typically show no symptoms, genetic disorders counseling and prenatal screening can help with early detection and informed family planning.

What are the Types of Roberts Syndrome?

Roberts Syndrome is classified based on the severity of symptoms, though the same ESCO2 gene mutation causes it.

Classic Roberts Syndrome: This is the most severe form, with significant limb deformities, facial abnormalities, growth delays, and organ defects. Affected individuals may have cleft lip/palate, shortened limbs, and intellectual disabilities.
Milder (Non-Classical) Roberts Syndrome: Symptoms are less severe, with milder limb and facial abnormalities. Growth delays may still occur, but cognitive development can be less affected.

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What are the Symptoms of Roberts Syndrome?

The presentation of Roberts Syndrome can vary significantly among individuals, but some common features are often observed.

Characteristic Symptoms

Limb Abnormalities: These can range from missing limbs (amelia) to shortened limbs (phocomelia), often affecting the upper limbs more severely than the lower.
Facial Anomalies: Cleft lip and palate, micrognathia (a small jaw), and hypertelorism (wide-set eyes) are frequently observed.
Growth Retardation: Both prenatal and postnatal growth retardation are common, leading to smaller stature and weight.
Intellectual Disability: While not present in all cases, some individuals may experience developmental delays and cognitive challenges.

Diagnostic Approach

Diagnosing Roberts Syndrome involves a combination of clinical evaluation and genetic testing. The presence of characteristic physical abnormalities often prompts further investigation.

Clinical Evaluation: A thorough physical examination to identify key features associated with the syndrome.
Cytogenetic Analysis: Chromosome studies can reveal distinctive patterns, such as premature centromere separation and cohesion defects in chromosomes.
Molecular Genetic Testing: Confirmation of the diagnosis is typically achieved through genetic testing to identify mutations in the ESCO2 gene.

What are the Causes of Roberts Syndrome?

Roberts Syndrome is caused by mutations in the ESCO2 gene, which plays a crucial role in cell division and chromosome cohesion. These mutations lead to improper cell replication, resulting in severe developmental abnormalities.

Genetic Mutation: Mutations in the ESCO2 gene disrupt normal cell division, causing growth defects.
Autosomal Recessive Inheritance: Both parents must carry a mutated ESCO2 gene for a child to inherit the condition.
Centromere Dysfunction: The mutation affects chromosome separation, leading to errors in fetal development.

Since Roberts Syndrome is a genetic disorder, carrier screening and genetic counseling can help at-risk families plan for future pregnancies.

What are the Risk Factors for Roberts Syndrome?

The primary risk factor for Roberts Syndrome is having parents who carry mutations in the ESCO2 gene, as it follows an autosomal recessive inheritance pattern.

Family History: If both parents are carriers, there is a 25% chance of passing the disorder to their child.
Consanguinity (Parental Relation): Marriages between close relatives increase the likelihood of inheriting the ESCO2 mutation.
Genetic Mutations: Mutations in the ESCO2 gene disrupt normal cell division, causing developmental abnormalities.
Previous Affected Child: Parents who have had one child with Roberts Syndrome face a higher risk of future pregnancies.

Genetic counseling and carrier screening can help at-risk families make informed reproductive decisions.

What is the Diagnosis Process for Roberts Syndrome?

The diagnosis of Roberts Syndrome involves clinical evaluation, genetic testing, and imaging studies to confirm the condition.

Physical Examination: Doctors assess characteristic features such as limb abnormalities, facial differences, and growth delays.
Genetic Testing: A molecular test identifies mutations in the ESCO2 gene, confirming the diagnosis.
Prenatal Diagnosis: Chorionic villus sampling (CVS) or amniocentesis can detect Roberts Syndrome before birth in at-risk pregnancies.
Imaging Studies: X-rays and ultrasounds help evaluate bone abnormalities and organ development.
Cytogenetic Testing: Examining chromosomes can reveal centromere separation, a hallmark of the disorder.

Early diagnosis allows for proper medical care and family planning.

What are the Treatments for Roberts Syndrome?

Roberts Syndrome has no specific cure, but treatment focuses on managing symptoms and improving quality of life.

Supportive Care: A team of specialists, including orthopedists, physical therapists, and surgeons, helps address limb abnormalities and mobility issues.
Surgical Interventions: Corrective surgeries may be needed for limb deformities, cleft lip, or palate abnormalities.
Physical and Occupational Therapy: Helps improve movement, coordination, and daily functioning.
Medical Monitoring: Regular check-ups monitor growth, organ function, and developmental progress.
Assistive Devices: Braces, prosthetics, or wheelchairs can aid mobility and independence.

Early intervention and multidisciplinary care improve outcomes for individuals with Roberts syndrome treatment.

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How can Roberts Syndrome be Prevented?

Roberts Syndrome is a rare genetic disorder caused by mutations in the ESCO2 gene, affecting cell division. Since it is inherited in an autosomal recessive pattern, prevention focuses on genetic counselling and screening.

Carrier screening can help detect ESCO2 gene mutations in at-risk individuals. Prenatal tests like chorionic villus sampling (CVS) or amniocentesis can diagnose the condition early. While it cannot be fully prevented, these steps help families make informed reproductive choices.

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Frequently Asked Questions

The prognosis varies based on severity. Severe cases may result in stillbirth or early infant death due to organ complications. Milder cases can survive into adulthood but may face significant physical and developmental challenges, requiring lifelong medical care.

Yes, Roberts Syndrome is an autosomal recessive genetic disorder caused by mutations in the ESCO2 gene. Both parents must carry a mutated copy for the child to inherit the condition, which affects cell division and leads to growth abnormalities.

Roberts Syndrome is extremely rare, with only a few dozen reported cases worldwide. Due to its rarity and varying severity, it is not well-documented, making diagnosis and treatment challenging.

Some individuals with milder forms of Roberts Syndrome can survive into adulthood. However, they often experience significant physical disabilities, developmental delays, and require ongoing medical support for skeletal and organ complications.

Yes, severe cases of Roberts Syndrome can be identified on prenatal ultrasound. Findings may include limb abnormalities, facial defects, microcephaly, and intrauterine growth restriction, prompting further genetic testing for confirmation.