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ORPHA:97360Malformation syndrome
Also called Acral dysostosis with facial and genital abnormalities · Fetal face syndrome · Mesomelic dwarfism-small genitalia syndrome · Robinow dwarfism · Robinow-Silverman-Smith syndrome
What it is
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive
- Classified as
- Malformation syndrome
Signs and symptoms
Common30–79%
5Sometimes5–29%
51- Abnormal heart morphology
- Ankyloglossia
- Anteverted nares
- Atrial septal defect
- Bifid distal phalanx of the thumb
- Bifid tongue
- Brachydactyly
- Broad alveolar ridges
and 43 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes reported in subtypes
Orphanet records these genes on 2 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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