Rare diseases · Sign or symptom
Multiple joint contractures
HP:0002828
Rare diseases that can present with this36
Very common80–99%
7- Aase-Smith syndrome type 1
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- Fetal akinesia deformation sequence
- Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- Progeria-short stature-pigmented nevi syndrome
- Restrictive dermopathy
- Spastic paraplegia-optic atrophy-neuropathy syndrome
Common30–79%
15- ANE syndrome
- Bethlem muscular dystrophy
- Central core disease
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
- Classic multiminicore myopathy
- Congenital muscular dystrophy with intellectual disability
- Congenital myopathy with myasthenic-like onset
- Distal myotilinopathy
- DNA2-related mitochondrial DNA deletion syndrome
- Dystonia-parkinsonism-hypermanganesemia syndrome
- Microcephalic cortical malformations-short stature due to RTTN deficiency
- Spondylodysplastic Ehlers-Danlos syndrome
- Trisomy 8p syndrome
- VPS11-related autosomal recessive hypomyelinating leukodystrophy
- X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
Sometimes5–29%
14- Aicardi-Goutières syndrome
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- Bathing suit ichthyosis
- CHILD syndrome
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- DYRK1A-related intellectual disability syndrome
- Emanuel syndrome
- Leigh syndrome
and 6 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
Multiple joint 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.