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Start free with EleplanAutosomal dominant Robinow syndrome
ORPHA:3107Clinical subtype
What it is
The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Clinical subtype
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
10Common30–79%
32- Abnormal form of the vertebral bodies
- Abnormality of the gingiva
- Bifid tongue
- Clinodactyly of the 5th finger
- Clitoral hypoplasia
- Cryptorchidism
- Curly eyelashes
- Depressed nasal bridge
- Downturned corners of mouth
- Epicanthus
- Euryblepharon
- Frontal bossing
- Gingival overgrowth
- Hemivertebrae
- High, narrow palate
- Hypoplastic labia majora
- Hypoplastic labia minora
- Long eyelashes
- Long palpebral fissure
- Long philtrum
- Macrocephaly
- Median cleft palate
- Micrognathia
- Open bite
- Pectus excavatum
- Prominent forehead
- Proptosis
- Retrognathia
- Severe short stature
- Short stature
- Umbilical hernia
- Upslanted palpebral fissure
Sometimes5–29%
38- Abnormality of the penis
- Alopecia
- Anodontia
- Avascular necrosis of the capital femoral epiphysis
- Blue sclerae
- Camptodactyly of finger
- Capillary hemangioma
- Coxa valga
and 30 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
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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