Orphanet: Roberts syndrome

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Roberts syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Pseudothalidomide syndrome
    • Roberts-SC phocomelia syndrome
    • SC phocomelia
    • SC pseudothalidomide syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q73.8
  • OMIM: 268300  269000
  • UMLS: C0392475
  • MeSH: C535687
  • GARD: 7387
  • MedDRA: -

Detailed information


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.