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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:
1) autosomal recessive
2) associated with defects in ESCO2 gene
Clinical manifestations:
1) prenatal & postnatal growth retardation
2) microcephaly
3) bilateral cleft lip & palate
4) mesomelic symmetric limb reduction
Differential diagnosis:
- SC phocomelia syndrome
Related
N-acetyltransferase ESCO2; establishment of cohesion 1 homolog 2; ECO1 homolog 2 (ESCO2)
SC phocomelia syndrome
General
genetic syndrome (multisystem disorder)
References
- OMIM :accession 268300