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Non-syndromic amelia

MONDO:0017419

A congenital malformation characterized by the complete absence of all limbs.

Also known as: amelia, nonsyndromic amelia, isolated amelia

5 clinical trials for this condition and its sub-types.

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Sub-types

Amelia of lower limb (2) Amelia of upper limb (2) Amelia of lower limb, bilateral (0) Amelia of lower limb, unilateral (0) Amelia of upper limb, bilateral (0) Amelia of upper limb, unilateral (0) Tetra-amelia (0)

Broader categories

Disease (680) Musculoskeletal system disorder (207) Hereditary disease (176) Bone disorder (51) Human disease (14) Skeletal system disorder (4) Bone development disease (2) Disease of genetic or genomic mechanism (2) Skeletal dysplasia (1) Disease by body system or component (0)
Trials to join now! 4 Completed 1
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  • Scientists hunt for hidden DNA clues behind missing limbs

    Knowledge-focused Completed

    This study investigates whether changes in DNA methylation—a kind of chemical switch—might cause certain rare limb malformations that appear without a family history. Researchers will compare DNA samples from 40 people with Amelia (missing two or four limbs) or Femur Fibula Ulna …

    Sponsor: University Hospital, Lille • Aim: Knowledge-focused

    Last updated Jun 27, 2026 12:37 UTC

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