Isolated radial hemimelia

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Isolated radial hemimelia

ORPHA:93321Morphological anomaly

Also called Isolated congenital longitudinal deficiency of the radius · Isolated radial club hand · Isolated radial longitidinal meromelia · Isolated radial ray agenesis

What it is

A rare congenital limb malformation characterized by partial or total absence of the radius.

Key facts

Prevalence
1-9 / 100 000
Age of onset
Antenatal, Infancy, Neonatal
Inheritance
Multigenic/multifactorial, X-linked recessive
Classified as
Morphological anomaly

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.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

LMBR1Disease-causing germline mutation(s)
SHHDisease-causing germline mutation(s)

ICD-10 codes

Q71.4ICD-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

GARD 225MONDO 0019671UMLS C5925047

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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