Isolated amelia of upper limb

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Isolated amelia of upper limb

ORPHA:294967Morphological anomaly

Also called Isolated congenital absence of upper limb

What it is

A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.

Key facts

Classified as
Morphological anomaly

ICD-10 codes

Q71.0ICD-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 0017437UMLS C5925029

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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