Rare diseases · Sign or symptom
Short thorax
Shorter than typical length between neck and abdomen
HP:0010306
What it means
Reduced inferior to superior extent of the thorax.
Rare diseases that can present with this35
Very common80–99%
23- Achondrogenesis
- Achondrogenesis type 1A
- Achondrogenesis type 1B
- Autosomal dominant brachyolmia
- Autosomal recessive spondylocostal dysostosis
- Blomstrand lethal chondrodysplasia
- Brachyolmia, Maroteaux type
- Craniosynostosis-anal anomalies-porokeratosis syndrome
- Diaphanospondylodysostosis
- Difference of sex development-intellectual disability syndrome
- Distal deletion 17q syndrome
- Ellis-Van Creveld syndrome
- Jeune syndrome
- Kyphomelic dysplasia
- Melnick-Needles syndrome
- Mucopolysaccharidosis type 4
- Platyspondylic dysplasia, Torrance type
- Short rib-polydactyly syndrome, Verma-Naumoff type
- Sialidosis type 1
- Sialidosis type 2
- Spondyloepiphyseal dysplasia, Kimberley type
- Thanatophoric dysplasia
- Thanatophoric dysplasia type 2
Common30–79%
7The 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
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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.