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Start free with EleplanShort rib-polydactyly syndrome, Verma-Naumoff type
ORPHA:93271Malformation syndrome
Also called Short rib-polydactyly syndrome type 3
What it is
A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period.
Key facts
- Prevalence
- <1 / 1 000 000 (United Arab Emirates)
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
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%
12Common30–79%
20- Abnormal cardiovascular system morphology
- Absent or minimally ossified vertebral bodies
- Ambiguous genitalia
- Cleft upper lip
- Congenital hepatic fibrosis
- Cryptorchidism
- Depressed nasal bridge
- Epicanthus
- Frontal bossing
- Hydronephrosis
- Hydrops fetalis
- Hypoplasia of penis
- Long philtrum
- Macrocephaly
- Micrognathia
- Postaxial hand polydactyly
- Renal hypoplasia
- Urethrovaginal fistula
- Uterus didelphys
- Wide nose
Sometimes5–29%
15- Agenesis of corpus callosum
- Anal atresia
- Bifid epiglottis
- Bifid tongue
- Cataract
- Cerebellar hypoplasia
- Dandy-Walker malformation
- Ectopic anus
and 7 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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