Isolated absence of both forearm and hand

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Isolated absence of both forearm and hand

ORPHA:294979Morphological anomaly

Also called Isolated congenital radio-ulnar terminal transverse meromelia

What it is

Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.

Key facts

Classified as
Morphological anomaly

ICD-10 codes

Q71.2ICD-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 0017443UMLS C5925020

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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