Non-syndromic hemimelia

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Non-syndromic hemimelia

ORPHA:2130Clinical group

Also called Non-syndromic longitudinal meromelia

What it is

Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.

Key facts

Prevalence
1-9 / 100 000 (Europe)
Age of onset
Neonatal
Inheritance
Not applicable
Classified as
Clinical group

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes reported in subtypes

GLI3LMBR1SHH

Orphanet records these genes on 2 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MEDDRA 10019464MONDO 0016240MONDO 16240UMLS C5925000

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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