Roberts syndrome (RBS)

Pathology

• RBS chromosomes lack cohesion of heterochromatic C-banding regions around centromeres & distal portion of long arm of Y chromosome
• premature centromere separation
• heterochromatin repulsion or puffing (RS effect)

Genetics

• autosomal recessive
• associated with defects in ESCO2 gene

Clinical manifestations

• prenatal & postnatal growth retardation
• microcephaly
• bilateral cleft lip & palate
• mesomelic symmetric limb reduction

Differential diagnosis

• SC phocomelia syndrome

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• N-acetyltransferase ESCO2; establishment of cohesion 1 homolog 2; ECO1 homolog 2 (ESCO2)
• SC phocomelia syndrome