Roberts Syndrome: Symptoms, Causes, Diagnosis and Treatment

Written by Medicover Team and Medically Reviewed by Dr Sanjay Prasad Hegde , Orthopedics

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Roberts syndrome is a rare genetic disorder that affects growth and development before birth. Also known as Roberts-SC phocomelia syndrome or SC phocomelia, it can cause severe limb abnormalities, distinctive facial features, growth restriction and abnormalities affecting multiple organs.

The condition is caused by mutations in the ESCO2 gene, which is important for proper chromosome cohesion and cell division. Roberts syndrome follows an autosomal recessive inheritance pattern, meaning an affected child inherits one altered copy of the gene from each parent.

What Are the Types of Roberts Syndrome?

Roberts syndrome is generally considered a spectrum disorder rather than a condition with clearly separate types. The symptoms can range from relatively mild to severe, even among individuals with changes in the same gene.

Severe Roberts Syndrome: This form may cause major limb reduction defects, severe growth restriction, craniofacial abnormalities and abnormalities of internal organs.
Milder Roberts Syndrome: Affected individuals may have less severe limb and facial abnormalities, growth problems and varying levels of developmental difficulty.

The severity of physical abnormalities does not always predict intellectual development or long-term health outcomes.

What Are the Symptoms of Roberts Syndrome?

The symptoms of Roberts syndrome vary considerably between affected individuals. The condition mainly affects growth, the limbs and facial development, but other organs and body systems may also be involved.

Limb Abnormalities: The arms and legs may be shortened or incompletely developed, a condition known as phocomelia. The upper limbs are often more severely affected.
Hand and Foot Abnormalities: Fingers or toes may be missing, fused or unusually positioned.
Growth Restriction: Poor growth can begin before birth and continue throughout childhood.
Facial Abnormalities: Features may include widely spaced eyes, a small jaw, prominent eyes and other craniofacial differences.
Cleft Lip or Palate: Some affected individuals have a cleft lip or palate.
Developmental Delay: Motor, speech or learning milestones may be delayed.
Intellectual Disability: Cognitive abilities vary widely, and some individuals may have intellectual disability.
Organ Abnormalities: The heart, kidneys, genital organs or other internal structures may be affected.

What Causes Roberts Syndrome?

Roberts syndrome is caused by disease-causing mutations in the ESCO2 gene. This gene provides instructions for producing a protein that is essential for normal chromosome structure and cell division.

ESCO2 Gene Mutations

Changes in the ESCO2 gene disrupt the normal cohesion of sister chromatids, which are identical copies of chromosomes formed during cell division. This disruption interferes with normal cell growth and development.

Chromosome Cohesion Abnormalities

Cells from individuals with Roberts syndrome show characteristic abnormalities involving premature separation of chromosome regions. These cellular changes contribute to the developmental abnormalities associated with the condition.

How Is Roberts Syndrome Inherited?

Roberts syndrome follows an autosomal recessive inheritance pattern. An affected individual inherits one altered ESCO2 gene from each parent. Parents who carry one altered copy usually do not have symptoms.

When both parents are carriers, each pregnancy has a 25% chance of producing an affected child, a 50% chance of producing a carrier and a 25% chance of producing a child who is neither affected nor a carrier.

When to See a Doctor for Roberts Syndrome?

Medical evaluation by a Clinical Geneticist or Orthopedician is recommended when a baby has severe growth restriction, shortened or missing limbs, unusual facial features, or multiple congenital abnormalities. Early assessment can help identify Roberts Syndrome and guide genetic testing, specialist care, and developmental support.

You should see a doctor if you have:

A baby with limb abnormalities, poor growth or distinctive facial features
A child with multiple congenital abnormalities and developmental delay
A family history of Roberts syndrome or a known ESCO2 gene mutation

Get medical help immediately if:

A baby has severe breathing or feeding difficulties
The lips or skin become blue or the child becomes unusually unresponsive
Symptoms of a congenital heart or organ abnormality suddenly worsen

These could be signs of a serious complication needing immediate medical care.

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How Is Roberts Syndrome Diagnosed?

Diagnosis involves clinical evaluation, chromosome studies and molecular genetic testing. The combination of characteristic physical features and specific cellular abnormalities can strongly suggest Roberts syndrome.

Physical Examination

Doctors assess limb development, facial features, growth, organ abnormalities and developmental progress.

Cytogenetic Testing

Chromosome analysis can identify characteristic abnormalities in chromosome cohesion, including premature centromere separation and related changes.

Genetic Testing

Molecular genetic testing can identify disease-causing mutations in the ESCO2 gene and confirm the diagnosis.

Imaging Studies

X-rays, ultrasound, echocardiography and other imaging tests may be used to evaluate limb development and identify abnormalities affecting the heart, kidneys or other organs.

Prenatal Diagnosis

When a family-specific ESCO2 mutation is known, prenatal genetic testing may be available using chorionic villus sampling or amniocentesis. Prenatal ultrasound can also identify severe growth restriction and structural abnormalities.

How Is Roberts Syndrome Treated?

There is currently no cure for Roberts syndrome. Treatment focuses on managing individual symptoms, correcting structural abnormalities when possible and supporting mobility, development and quality of life.

Surgical Treatment

Surgery may be considered to correct certain limb abnormalities, cleft lip or palate and other structural problems that affect health or function.

Physical Therapy

Physical therapy can help improve strength, mobility, balance and the ability to perform daily activities.

Occupational Therapy

Occupational therapy helps individuals develop practical skills and adapt daily activities to physical limitations.

Assistive Devices

Prostheses, braces, wheelchairs and other mobility devices may improve independence and participation in everyday activities.

Developmental and Educational Support

Children with developmental or learning difficulties may benefit from speech therapy, early intervention programmes and individualised educational support.

Medical Monitoring

Regular medical follow-up is important to monitor growth, development and the function of the heart, kidneys and other affected organs.

Genetic Counselling

Genetic counselling helps families understand the inheritance pattern, carrier status, recurrence risks and available reproductive testing options.

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What Are the Risk Factors for Roberts Syndrome?

Because Roberts syndrome is an inherited genetic disorder, the main risk factors are related to family history and the presence of ESCO2 gene mutations.

Carrier Parents: The risk is highest when both parents carry a disease-causing ESCO2 gene variant.
Family History: Having relatives with Roberts syndrome or a known ESCO2 mutation increases the likelihood of carrying the genetic change.
Previous Affected Child: Parents who have had one child with Roberts syndrome have a recurrence risk in future pregnancies.
Consanguinity: Parents who are closely related may have a higher chance of carrying the same rare autosomal recessive gene variant.

Can Roberts Syndrome Be Prevented?

Roberts syndrome cannot be prevented because it is caused by inherited genetic changes. However, carrier testing and genetic counselling can help individuals with a family history of the condition understand their reproductive risks.

For couples who both carry an ESCO2 gene mutation, prenatal testing and other reproductive options may be available. A genetic counsellor can explain the benefits, limitations and implications of each option.

Living With Roberts Syndrome

Living with Roberts syndrome often requires long-term multidisciplinary care. The specific medical and developmental needs depend on the severity of limb abnormalities, growth restriction, organ involvement and developmental challenges.

Early therapy, appropriate assistive devices, regular specialist monitoring and educational support can help affected individuals achieve greater independence. Families may also benefit from genetic counselling, psychological support and connections with rare disease support organisations.

Frequently Asked Questions

1. What is the prognosis of Roberts Syndrome?

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.

2. Is Roberts Syndrome a genetic disorder?

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.

3. How rare is Roberts Syndrome?

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.

4. Can people with Roberts Syndrome survive into adulthood?

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.

5. Can Roberts Syndrome be detected on ultrasound?

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.