Rare diseases · Sign or symptom
Elbow flexion contracture
HP:0002987
What it means
An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
Rare diseases that can present with this39
Common30–79%
16- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal recessive Emery-Dreifuss muscular dystrophy
- Calpain-3-related limb-girdle muscular dystrophy R1
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Cyanide-induced parkinsonism-dystonia
- Emery-Dreifuss muscular dystrophy
- Frontometaphyseal dysplasia
- Infantile-onset X-linked spinal muscular atrophy
- Multiple epiphyseal dysplasia type 4
- Nail-patella syndrome
- Neurogenic arthrogryposis multiplex congenita
- Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- Rigid spine syndrome
- Say-Barber-Miller syndrome
- Stüve-Wiedemann syndrome
- Ullrich congenital muscular dystrophy
Sometimes5–29%
18- Anoctamin-5-related limb-girdle muscular dystrophy R12
- Atelosteogenesis type II
- Autosomal dominant spastic paraplegia type 9B
- Bethlem muscular dystrophy
- Congenital fiber-type disproportion myopathy
- Distal deletion 12q syndrome
- Hypotonia-speech impairment-severe cognitive delay syndrome
- Isolated ulnar hemimelia
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: Elbow flexion contractures · Elbow flexion deformity · Fixed flexion at the elbow joint
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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.