Roberts syndrome

Roberts Syndrome: A Rare Genetic Disorder

Roberts syndrome, also known as pseudothalidomide syndrome, is a rare autosomal recessive genetic disorder that affects the growth and development of various parts of the body. The condition is characterized by:

• Limb abnormalities: Individuals with Roberts syndrome often have shortened arm and leg bones (hypomelia), and may be born with missing toes and fingers.
• Facial abnormalities: The face can also be affected, with features such as cleft lip and palate, micrognathia (small lower jaw), and ear abnormalities.
• Growth delays: Affected individuals experience pre- and postnatal growth retardation, leading to low birth weight and subsequent growth failure.
• Intellectual impairment: Mild to severe intellectual impairment occurs in about half of all people with Roberts syndrome.

The condition is caused by a mutation in the ESCO2 gene, which results in abnormal cell division and growth. The symptoms can vary in severity, but affected individuals often require ongoing medical care and support.

References:

• [1] Description of Roberts syndrome as an autosomal recessive genetic disorder characterized by limb and facial abnormalities (Search result 3).
• [2] Mention of Roberts syndrome as a rare genetic disorder with prenatal growth restriction, limb reductions, and craniofacial abnormalities (Search result 13).
• [3] Description of the condition's effects on growth and development, including hypomelia and cleft lip/palate (Search results 5 and 14).

Roberts Syndrome Signs and Symptoms

Roberts syndrome, also known as pseudothalidomide syndrome, is a rare genetic disorder characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, limbs, and other parts of the body. The signs and symptoms of Roberts syndrome may vary widely from person to person, even among members of the same family.

Common Symptoms:

• Growth delay, before and after birth
• Abnormalities of all four limbs (limb reductions)
• Craniofacial abnormalities
• Microcephaly (small head size)
• Bitemporal hollowing (depression in the temples)
• Low sloping forehead
• Slightly prominent occiput (back of the head)
• Widely set eyes
• Broad and prominent nose

Life-Threatening Complications:

• Infants with Roberts syndrome often experience life-threatening complications early in infancy, such as respiratory distress, cardiac problems, or infections.

Variation in Disease Severity:

The severity of Roberts syndrome can vary greatly among affected individuals. Some people may have mild symptoms and live into adulthood, while others may be stillborn or die shortly after birth due to severe complications.

References:

• [1] Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. (Source: #8)
• The signs and symptoms of Roberts syndrome may result from the loss of cells from various tissues during early development. Because both mildly and severely affected individuals lack any functional ESCO2 protein, the underlying cause of the variation in disease severity remains unknown. (Source: #11)
• Infants with a severe form of Roberts Syndrome are often stillborn or die shortly after birth, while mildly affected individuals may live into adulthood. (Source: #12)

Diagnostic Tests for Roberts Syndrome

Roberts syndrome, also known as pseudothalidomide syndrome or ESCO2 spectrum disorder, is a rare genetic disorder characterized by growth delays before and after birth, malformations of the arms and legs, and distinctive abnormalities of the skull and facial region. The diagnosis of this condition relies on various diagnostic tests.

Cytogenetic Testing

The primary diagnostic test for Roberts syndrome is cytogenetic testing, which involves analyzing the chromosomes in cells from the peripheral blood or other tissues (1, 4, 14). This test can detect mutations in the ESCO2 gene, which is responsible for this condition. Cytogenetic testing can also be performed on fetal cells obtained through amniocentesis to diagnose Roberts syndrome prenatally (12, 14).

Molecular Genetic Testing

In addition to cytogenetic testing, molecular genetic testing for ESCO2 gene mutations can also be used to confirm the diagnosis of Roberts syndrome (7, 8). This test involves analyzing DNA from blood, extracted DNA, buccal swab, or saliva samples.

Other Diagnostic Tests

While not as commonly used, other diagnostic tests such as chorionic villus sampling (CVS) and amniocentesis can also be employed to diagnose Roberts syndrome in prenatal cases (9). These invasive procedures involve analyzing fetal cells obtained through a needle inserted into the placenta or uterus.

Diagnostic Teams

A multidisciplinary team of specialists, including genetics, neurology, odontology, ophthalmology, and other relevant experts, may be involved in diagnosing and managing Roberts syndrome (10).

In summary, the diagnostic tests for Roberts syndrome include:

• Cytogenetic testing
• Molecular genetic testing for ESCO2 gene mutations
• Chorionic villus sampling (CVS)
• Amniocentesis

These tests can help confirm the diagnosis of this rare genetic disorder and provide essential information for prenatal diagnosis and management.

References: [1] [4] [14] [7] [8] [9] [10] [12]

Differential Diagnoses for Roberts Syndrome

Roberts syndrome, also known as pseudothalidomide syndrome, is a rare autosomal recessive genetic disorder characterized by severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs. When diagnosing Roberts syndrome, it's essential to consider other conditions that may present similar symptoms.

Conditions to Consider

• Thalidomide embryopathy: This condition is caused by exposure to thalidomide during pregnancy and can result in severe limb malformations.
• Baller-Gerold syndrome: A rare genetic disorder characterized by craniofacial abnormalities, including a prominent forehead, wide-set eyes, and a small jaw.
• Cornelia de Lange syndrome: A genetic disorder that affects physical and intellectual development, often presenting with facial features such as a long nose, thin upper lip, and low-set ears.
• TAR syndrome (Thrombocytopenia-Absent Radius): A rare genetic disorder characterized by the absence or underdevelopment of one or both radii bones in the forearm.
• Zimmer phocomelia: A rare congenital disorder characterized by the absence or underdevelopment of limbs, often accompanied by other skeletal abnormalities.
• DK phocomelia syndrome (Von Voss Cherstvoy syndrome): A rare genetic disorder characterized by limb malformations and other skeletal abnormalities.
• Bartsocas-Papas syndrome: A rare genetic disorder characterized by craniofacial abnormalities, including a prominent forehead, wide-set eyes, and a small jaw.

Key Points to Consider

• The differential diagnosis of Roberts syndrome depends on the severity of the manifestations [4].
• Genetic counseling should be offered to patients carrying fetuses with suspected Roberts syndrome [14].
• Prenatal diagnosis for pregnancies at increased risk is possible by analysis of deoxyribonucleic acid extracted from fetal cells obtained by chorionic villus sampling or amniocentesis [14].

References

[1] - Context 3 [4] - Context 4 [14] - Context 14