Arthrogryposis multiplex congenita

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Arthrogryposis multiplex congenita

ORPHA:1037Clinical group

Also called AMC · Multiple congenital arthrogryposis

What it is

A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.

Key facts

Prevalence
1-9 / 100 000 (at birth, Europe)
Age of onset
Neonatal
Inheritance
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
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

ADCY6ASCC1BLTP1CNTN1CNTNAP1COASYCOL25A1DOK7ERGIC1FKBP10GLDNGLE1KIF14KIF21ALGI4MAGEL2MUSKMYBPC1MYOD1NUP88PIEZO2RAPSNSCARF2SCYL2SLC18A3SMPD4SYNE1TRIP4TUBA1AUBA1VIPAS39VPS33BZC4H2

Orphanet records these genes on 18 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.

ICD-10 codes

Q74.3ICD-10 names this disease exactly — 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 777MEDDRA 10051643MONDO 0015168MONDO 15168UMLS C5779613

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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