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Roberts syndrome

MIM.268300 8p21.1

RBS, Roberts-SC phocomelia syndrome

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

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

- cerbral anomalies

  • mental retardation
  • frontal encephalocele
  • hydrocephalus
  • cranial nerve paralysis

- 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

Keywords