Rare diseases · Sign or symptom
Abnormality of the knee
HP:0002815
What it means
An abnormality of the knee joint or surrounding structures.
Rare diseases that can present with this32
Very common80–99%
10- Axial mesodermal dysplasia spectrum
- Chondroectodermal dysplasia with night blindness
- Coxopodopatellar syndrome
- Genochondromatosis type 1
- Hereditary sensory and autonomic neuropathy type 2
- Osteochondritis dissecans
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Rhizomelic syndrome, Urbach type
- Satoyoshi syndrome
- Splenogonadal fusion-limb defects-micrognathia syndrome
Common30–79%
11- Autosomal recessive spastic paraplegia type 61
- Blount disease
- Cranio-osteoarthropathy
- Familial articular hypermobility syndrome
- Intermittent hydrarthrosis
- Multiple osteochondromas
- Nail-patella syndrome
- Progressive pseudorheumatoid dysplasia
- Spondyloepiphyseal dysplasia tarda, Kohn type
- Spondylometaphyseal dysplasia, Schmidt type
- Tenosynovial giant cell tumor
Sometimes5–29%
11- Dislocation of the hip-dysmorphism syndrome
- Epidermolysis bullosa simplex with circinate migratory erythema
- Farber disease
- Localized dystrophic epidermolysis bullosa, acral form
- Mesomelia-synostoses syndrome
- Multiple epiphyseal dysplasia due to collagen 9 anomaly
- Mycetoma
- Psoriasis-related juvenile idiopathic arthritis
and 3 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.