Rare diseases · Sign or symptom
Abnormality of the elbow
Abnormality of the elbows
HP:0009811
What it means
An anomaly of the joint that connects the upper and the lower arm.
Rare diseases that can present with this34
Very common80–99%
6Common30–79%
15- 3M syndrome
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Dystrophic epidermolysis bullosa pruriginosa
- Femur-fibula-ulna complex
- Hurler syndrome
- Hypochondroplasia
- Juberg-Hayward syndrome
- Laron syndrome
- Lethal congenital contracture syndrome type 1
- Müllerian duct anomalies-limb anomalies syndrome
- Nail-patella syndrome
- Neurofaciodigitorenal syndrome
- Progressive pseudorheumatoid dysplasia
- Ruvalcaba syndrome
- Wiedemann-Steiner syndrome
Sometimes5–29%
13- Cerebrotendinous xanthomatosis
- Distal deletion 10p syndrome
- Enthesitis-related juvenile idiopathic arthritis
- Familial articular hypermobility syndrome
- Farber disease
- Hemophilia A
- Localized dystrophic epidermolysis bullosa, acral form
- Noonan syndrome-like disorder with loose anagen hair
and 5 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
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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.