Rare diseases · Sign or symptom
Genu varum
Outward bow-leggedness
HP:0002970
What it means
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Rare diseases that can present with this39
Very common80–99%
8- Autosomal recessive hypophosphatemic rickets
- Epiphyseal stippling-osteoclastic hyperplasia syndrome
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- Hypocalcemic vitamin D-dependent rickets
- Léri-Weill dyschondrosteosis
- Metaphyseal chondrodysplasia, Spahr type
- Orofaciodigital syndrome type 4
- Satoyoshi syndrome
Common30–79%
17- Acrocapitofemoral dysplasia
- Acrodysostosis
- Dysplasia epiphysealis hemimelica
- Hypocalcemic vitamin D-resistant rickets
- Hypochondroplasia
- Megalocornea-intellectual disability syndrome
- Metaphyseal chondrodysplasia, Schmid type
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- Multiple epiphyseal dysplasia type 5
- Platyspondylic dysplasia, Torrance type
- Spondyloepimetaphyseal dysplasia, Missouri type
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
- Spondylometaphyseal dysplasia, 'corner fracture' type
- Spondylometaphyseal dysplasia, Kozlowski type
- Temtamy syndrome
- Thrombocytopenia-absent radius syndrome
- X-linked hypophosphatemia
Sometimes5–29%
12- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- Mesomelic dysplasia, Nievergelt type
- Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- Multiple epiphyseal dysplasia due to collagen 9 anomaly
- Neurofibromatosis type 1
- Ollier disease
- Pachydermoperiostosis
- Progressive pseudorheumatoid dysplasia
and 4 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: Genu vara · Genua vara · Outward bowing at knees
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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.