Isolated absence of both lower leg and…

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Isolated absence of both lower leg and foot

ORPHA:294981Morphological anomaly

Also called Isolated congenital tibiofibular terminal transverse meromelia

What it is

Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.

Key facts

Classified as
Morphological anomaly

ICD-10 codes

Q72.2ICD-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

MONDO 0017444UMLS C5925025

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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