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Roberts syndrome

MIM.268300 8p21.1

Thursday 19 January 2006

Autosomal recessive disease. Severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death. Likely allelic with SC phocomelia syndrome (MIM.269000).

The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, microcephaly, and mental deficiency.

Synopsis

- low birth weight
- birth length less than 40cm
- birth weight 1.5-2.2 kg
- severe prenatal growth deficiency
- failure to thrive
- mild-severe postnatal growth deficiency

- craniofacial anomalies

- cardiovascular malformations

- rudimentary gallbladder
- accessory spleen

- genitoal anomalies

- renal anomalies

- skeletal and limb anomalies

  • craniosynostosis
  • hypomelia (more severe in upper limbs)
  • phocomelia (tetraphocomelia) (Roberts-SC phocomelia)
  • elbow contracture
  • absence or reduction in length of humerus, radius, or ulna
  • knee contracture
  • absence or reduction in length of femur, tibia, or fibula
  • wrist contracture
  • syndactyly
  • clinodactyly
  • oligodactyly (ectrodactyly)
  • ankle contracture
  • talipes equinovalgus
  • reduction in number of toes

- midfacial capillary hemangioma
- sparse hair
- silvery blonde scalp hair

- cerbral anomalies

- polyhydramnios

Cytogenetics

- premature separation of centromeric heterochromatin
- normal karyotype
- abnormal nuclear morphology

Etiology

- Roberts syndrome is caused by mutation in

  • ESCO2 gene (cohesion 1 homolog 2 gene) (MIM.609353) (The protein product of the ESCO2 gene is required for the establishment of sister chromatid cohesion during S phase)
  • NIPPL gene

See also

- SC phocomelia