Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanAutosomal recessive Robinow syndrome
ORPHA:1507Clinical subtype
Also called COVESDEM syndrome · Costovertebral segmentation defect-mesomelia syndrome · RRS
What it is
Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- 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%
16- Abnormality of the dentition
- Anteverted nares
- Brachydactyly
- Clinodactyly of the 5th finger
- Disproportionate short-limb short stature
- Downturned corners of mouth
- Hypertelorism
- Hypoplasia of penis
- Mesomelia
- Midface retrusion
- Open bite
- Short distal phalanx of finger
- Short nose
- Vertebral segmentation defect
- Wide mouth
- Wide nasal bridge
Common30–79%
28- Ankyloglossia
- Bifid tongue
- Broad hallux phalanx
- Broad thumb
- Chronic otitis media
- Cryptorchidism
- Depressed nasal bridge
- Elbow dislocation
- Epicanthus
- Fingernail dysplasia
- Frontal bossing
- Gingival overgrowth
- Hearing impairment
- Hypoplastic female external genitalia
- Kyphosis
- Long eyelashes
- Long palpebral fissure
- Long philtrum
- Macrocephaly
- Micrognathia
- Pectus excavatum
- Posteriorly rotated ears
- Proptosis
- Rib fusion
- Scoliosis
- Tented upper lip vermilion
- Umbilical hernia
- Upslanted palpebral fissure
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.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.