Rare diseases · Sign or symptom
Abnormal thorax morphology
Abnormality of the chest
HP:0000765
What it means
Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
Rare diseases that can present with this37
Very common80–99%
6Common30–79%
16- Campomelia, Cumming type
- Christianson syndrome
- GAPO syndrome
- Hypocalcemic vitamin D-resistant rickets
- Infantile myofibromatosis
- Intermediate nemaline myopathy
- Kaposiform lymphangiomatosis
- Limb body wall complex
- Lipodystrophy due to peptidic growth factors deficiency
- Neurofibromatosis-Noonan syndrome
- Pediatric acute respiratory distress syndrome
- Pleural mesothelioma
- Severe congenital nemaline myopathy
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Wolf-Hirschhorn syndrome
Sometimes5–29%
14- 22q11.2deletion syndrome
- 6q16microdeletion syndrome
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Aymé-Gripp syndrome
- Centrifugal lipodystrophy
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- Criss-cross heart
- Hutchinson-Gilford progeria syndrome
and 6 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: Abnormality of the thorax · Structural abnormality of the chest wall
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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.