x

Search for a rare disease

* (*) mandatory field
Suggest an update

(*) Required fields.

Attention: 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

Robinow syndrome

Disease definition

Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.

ORPHA:97360

  • Synonym(s):
    • Acral dysostosis with facial and genital abnormalities
    • Fetal face syndrome
    • Mesomelic dwarfism-small genitalia syndrome
    • Robinow dwarfism
    • Robinow-Silverman-Smith syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 180700  268310  616331  616894
  • UMLS: C0265205
  • MeSH: -
  • GARD: 312
  • MedDRA: -

Detailed information

Professionals

Additional information

Specialised Social Services

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.