Preferred Label : Robinow syndrome;
ICD-11 definition : Robinow syndrome is a rare genetic syndrome characterized by limb shortening and abnormalities
of the head, face and external genitalia. Two forms of the syndrome with different
patterns of inheritance and variable frequency of clinical signs have been described:
a milder autosomal dominant form (autosomal dominant Robinow syndrome) and a more
severe autosomal recessive form (autosomal recessive Robinow syndrome).;
Origin ID : 1010745722;
Currated CISMeF NLP mapping
- Validated automatic mappings to BTNT
Robinow syndrome is a rare genetic syndrome characterized by limb shortening and abnormalities
of the head, face and external genitalia. Two forms of the syndrome with different
patterns of inheritance and variable frequency of clinical signs have been described:
a milder autosomal dominant form (autosomal dominant Robinow syndrome) and a more
severe autosomal recessive form (autosomal recessive Robinow syndrome).
