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Start free with EleplanIsolated tibial hemimelia
ORPHA:93322Morphological anomaly
Also called Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula · Isolated congenital longitudinal deficiency of the tibia · Isolated tibial longitudinal meromelia
What it is
A rare congenital limb formation characterized by partial or complete absence of the tibia with a relatively intact fibula.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Classified as
- Morphological anomaly
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
Sometimes5–29%
19- Absent hallux
- Absent radius
- Aplasia of the 2nd metacarpal
- Aplasia of the 4th metacarpal
- Cutaneous finger syndactyly
- Foot oligodactyly
- Hip dysplasia
- Increased laxity of ankles
and 11 more in this range
Rare1–4%
9- Ambiguous genitalia
- Cleft palate
- Coxa valga
- Cryptorchidism
- Hearing impairment
- Hemivertebrae
- Hip dislocation
- Hypospadias
and 1 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.
Gene
ICD-10 codes
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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