Isolated absence of thigh and lower leg

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Isolated absence of thigh and lower leg with foot present

ORPHA:294977Morphological anomaly

Also called Isolated congenital femoro-tibio-fibular intercalary transverse meromelia

What it is

Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.

Key facts

Classified as
Morphological anomaly

ICD-10 codes

Q72.1ICD-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 0017442UMLS C5925019

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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