Rare diseases · Sign or symptom
Pectus carinatum
Pigeon chest
HP:0000768
What it means
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Rare diseases that can present with this87
Very common80–99%
17- Camptodactyly syndrome, Guadalajara type 1
- Coffin-Lowry syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Cryptorchidism-arachnodactyly-intellectual disability syndrome
- Dysmorphism-pectus carinatum-joint laxity syndrome
- Intellectual disability, Buenos-Aires type
- Intellectual disability-polydactyly-uncombable hair syndrome
- Marfan syndrome
- Mucopolysaccharidosis type 4
- Neonatal Marfan syndrome
- Noonan syndrome
- Osteogenesis imperfecta
- Penoscrotal transposition
- Radioulnar synostosis-microcephaly-scoliosis syndrome
- Richieri Costa-da Silva syndrome
- Sialidosis type 1
- Spondyloepimetaphyseal dysplasia, Irapa type
Common30–79%
28- Acro-renal-mandibular syndrome
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- Amish nemaline myopathy
- Aspartylglucosaminuria
- Autosomal recessive spastic paraplegia type 53
- Becker nevus syndrome
- Deletion 5q35 syndrome
- Developmental and speech delay due to SOX5 deficiency
- Distal duplication 17q syndrome
- Dyggve-Melchior-Clausen disease
- Homocystinuria due to cystathionine beta-synthase deficiency
- Juvenile Paget disease
- Marden-Walker syndrome
- Marinesco-Sjögren syndrome
- Mowat-Wilson syndrome
- Noonan syndrome with multiple lentigines
- Occipital horn syndrome
- PLAA-associated neurodevelopmental disorder
- Ruvalcaba syndrome
- SCARF syndrome
- Schwartz-Jampel syndrome
- Shprintzen-Goldberg syndrome
- Sialidosis type 2
- Spinocerebellar ataxia type 43
- Spondylocarpotarsal synostosis
- Spondylometaphyseal dysplasia, 'corner fracture' type
- Stickler syndrome
- Trichorhinophalangeal syndrome type 1
Sometimes5–29%
34- 20p12.3microdeletion syndrome
- 20q11.2microduplication syndrome
- 3q29microdeletion syndrome
- Acrocapitofemoral dysplasia
- Alpha-mannosidosis, infantile form
- Aneurysm-osteoarthritis syndrome
- Autosomal dominant otospondylomegaepiphyseal dysplasia
- Autosomal dominant Robinow syndrome
and 26 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
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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.