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Roberts syndrome

Disease Summary
Associated Targets (8)
Tbio

7

Tchem

1


GARD Rare
Mondo Description Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.
Uniprot Description Rare autosomal recessive disorder characterized by pre- and postnatal growth retardation, microcephaly, bilateral cleft lip and palate, and mesomelic symmetric limb reduction. Severely affected infants may be stillborn or die shortly after birth. RBS chromosomes have a lack of cohesion involving the heterochromatic C-banding regions around centromeres and the distal portion of the long arm of the Y chromosome (known as premature centromere separation, heterochromatin repulsion or puffing, or RS effect).
Disease Ontology Description An autosomal recessive disease that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene.
Mondo Term and Equivalent IDs
MONDO:0009997:  Roberts syndrome
GARD:0007387: 
MESH:C535687: 
NCIT:C126326: 
Orphanet:3103: 
SCTID:48718006: