Roberts-SC Phocomelia Syndrome

Alternative Names

  • RBS
  • Roberts Syndrome
  • SC Phocomelia Syndrome
  • Long Bone Deficiencies Associated With Cleft Lip-Palate
  • SC Pseudothalidomide Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

268300

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8p21.1

Description

Roberts-SC phocomelia syndrome (RBS) is a rare autosomal recessive disorder clinically characterized by prenatal-onset growth retardation that continues in the postnatal period, extremity malformations, craniofacial anomalies, impaired intellectual development, and cardiac and renal anomalies. Prenatal-onset growth retardation may be mild to severe. The upper limbs are more affected than the lower limbs, where variations from tetraphocomelia (symetrical limb reduction) to hypomelia arising from mesomelic shortness are seen. Elbow and knee contractures, reduction in the number and length of fingers, thumb aplasia and hypoplasia, and clinodactyly may also be observed. Severely affected patients may die during pregnancy or the neonatal period, whereas slightly affected patients will reach adulthood. [From OMIM]

Epidemiology in the Arab World

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Other Reports

Lebanon

BenEzra et al. (1982) described a Lebanese family with two siblings affected with radial aplasia and anterior chamber cleavage. The authors considered the brothers to be suffering from SC Phocomelia Syndrome. 

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