Rare diseases · Sign or symptom
Bowing of the long bones
Bowed long bones
HP:0006487
What it means
A bending or abnormal curvature of a long bone.
Curvatures of a long bone such as femur, tibia, or fibula.
Rare diseases that can present with this63
Very common80–99%
35- Acromesomelic dysplasia, Grebe type
- Autosomal recessive malignant osteopetrosis
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- Campomelia, Cumming type
- Campomelic dysplasia
- Cartilage-hair hypoplasia
- Cloverleaf skull-multiple congenital anomalies syndrome
- Cole-Carpenter syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Diastrophic dysplasia
- Epiphyseal stippling-osteoclastic hyperplasia syndrome
- Ghosal hematodiaphyseal dysplasia
- Gnathodiaphyseal dysplasia
- Grant syndrome
- Growth delay-hydrocephaly-lung hypoplasia syndrome
- Juvenile Paget disease
- Kyphomelic dysplasia
- Langer mesomelic dysplasia
- Marshall-Smith syndrome
- Melnick-Needles syndrome
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- Mesomelic dysplasia, Savarirayan type
- Metaphyseal anadysplasia
- Metaphyseal chondrodysplasia, Spahr type
- Mucopolysaccharidosis type 4
- Otopalatodigital syndrome type 2
- Phocomelia, Schinzel type
- Platyspondylic dysplasia, Torrance type
- Roberts syndrome
- Schwartz-Jampel syndrome
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- Stüve-Wiedemann syndrome
- Thanatophoric dysplasia type 1
- Weismann-Netter syndrome
Common30–79%
12- Acrodysostosis
- Acromesomelic dysplasia, Maroteaux type
- Alpha-mannosidosis
- Baller-Gerold syndrome
- Beta-thalassemia major
- Blomstrand lethal chondrodysplasia
- Fibrous dysplasia of bone
- Metaphyseal chondrodysplasia, Jansen type
- Oncogenic osteomalacia
- Otopalatodigital syndrome type 1
- Van den Ende-Gupta syndrome
- X-linked hypophosphatemia
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: Bowing of long bones · Camptomelia · Diaphyseal bowing · Diaphyseal bowing of long bones
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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.