Rare diseases · Sign or symptom
Arthrogryposis multiplex congenita
HP:0002804
What it means
Multiple congenital contractures in different body areas.
Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature.
Rare diseases that can present with this49
Very common80–99%
18- Arthrogryposis-renal dysfunction-cholestasis syndrome
- Autosomal recessive myogenic arthrogryposis multiplex congenita
- Bruck syndrome
- COFS syndrome
- Congenital contractural arachnodactyly
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome
- Fetal akinesia deformation sequence
- Fetal Gaucher disease
- Genitopatellar syndrome
- German syndrome
- Lissencephaly type 3-metacarpal bone dysplasia syndrome
- Marden-Walker syndrome
- Multiple pterygium-malignant hyperthermia syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Restrictive dermopathy
- RFT1-CDG
- Schwartz-Jampel syndrome
Common30–79%
8- Antenatal multiminicore disease with arthrogryposis multiplex congenita
- Autosomal recessive multiple pterygium syndrome
- Congenital myasthenic syndrome
- Infantile-onset X-linked spinal muscular atrophy
- Isolated permanent neonatal diabetes mellitus
- Native American myopathy
- Pontocerebellar hypoplasia type 4
- Presynaptic congenital myasthenic syndrome
Sometimes5–29%
18- 19p13.12microdeletion syndrome
- 1q21.1microduplication syndrome
- Autism spectrum disorder due to AUTS2 deficiency
- Autosomal recessive spastic paraplegia type 55
- Bilateral polymicrogyria
- CACH syndrome
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Gaucher disease
and 10 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Arthrogryposis · Arthrogryposis multiplex · Arthrogryposis, congenital · Multiple congenital contractures
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.