Rare diseases · Sign or symptom
Thoracic kyphosis
HP:0002942
What it means
Over curvature of the thoracic region, leading to a round back or if sever to a hump.
Rare diseases that can present with this15
Very common80–99%
2Sometimes5–29%
10- Cerebrotendinous xanthomatosis
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Oculoskeletodental syndrome
- Proximal spinal muscular atrophy
- Spondyloepiphyseal dysplasia tarda
- Spondylometaphyseal dysplasia, Kozlowski type
and 2 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: Accentuated thoracic kyphosis · Exaggerated thoracic kyphosis
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.