Isolated fibular hemimelia

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Isolated fibular hemimelia

ORPHA:93323Morphological anomaly

Also called Isolated congenital longitudinal deficiency of the fibula · Isolated fibular deficiency · Isolated fibular longitudinal meromelia

What it is

A rare congenital limb malformation characterized by complete or partial absence of the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot.

Key facts

Prevalence
1-9 / 100 000
Age of onset
Antenatal
Inheritance
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

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.

ICD-10 codes

Q72.6ICD-10 names this disease exactly

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

GARD 8659MONDO 0019672UMLS C5925049

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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