Rare diseases · Sign or symptom
Abnormality of the lower limb
Lower limb deformities
HP:0002814
What it means
An abnormality of the leg.
Rare diseases that can present with this29
Very common80–99%
13- Absence deformity of leg-cataract syndrome
- Adams-Oliver syndrome
- Autosomal recessive hypophosphatemic rickets
- Chromomycosis
- Cutis marmorata telangiectatica congenita
- Diaphragmatic defect-limb deficiency-skull defect syndrome
- Growth delay-hydrocephaly-lung hypoplasia syndrome
- Kaposi sarcoma
- Livedoid vasculopathy
- Metaphyseal anadysplasia
- Microphthalmia with limb anomalies
- Parkes Weber syndrome
- Undifferentiated pleomorphic sarcoma
Common30–79%
6The 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: Abnormality of the leg
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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.