Arthrogryposis-severe scoliosis syndrome

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Arthrogryposis-severe scoliosis syndrome

ORPHA:65720Malformation syndrome

Also called Distal arthrogryposis type 4 · Distal arthrogryposis type IID

What it is

A rare distal arthrogryposis characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Neonatal
Inheritance
Autosomal dominant
Classified as
Malformation syndrome

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.

ICD-10 codes

Q68.8filed under a broader ICD-10 category — shared with 29 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

MESH C563791MONDO 0012195OMIM 609128UMLS C1836756

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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