Neurogenic arthrogryposis multiplex…

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Neurogenic arthrogryposis multiplex congenita

ORPHA:1143Disease

What it is

A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.

Key facts

Prevalence
1-9 / 100 000 (at birth, Europe)
Age of onset
Neonatal
Inheritance
Autosomal recessive
Classified as
Disease

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

COL25A1Disease-causing germline mutation(s)
ERGIC1Disease-causing germline mutation(s)
SCYL2Disease-causing germline mutation(s)

ICD-10 codes

Q74.3filed under a broader ICD-10 category — shared with 3 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

GARD 790MESH C536614MONDO 0008823OMIM 208100OMIM 618766UMLS C1859721

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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