Rare diseases · Sign or symptom
Pectus excavatum
Funnel chest
HP:0000767
What it means
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Rare diseases that can present with this174
Very common80–99%
31- 8p inverted duplication/deletion syndrome
- Acropectorovertebral dysplasia
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal recessive Emery-Dreifuss muscular dystrophy
- Autosomal recessive multiple pterygium syndrome
- Braddock syndrome
- Branchioskeletogenital syndrome
- Camptodactyly syndrome, Guadalajara type 1
- Camptodactyly syndrome, Guadalajara type 2
- Cataract-hypertrichosis-intellectual disability syndrome
- Coffin-Lowry syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- De Barsy syndrome
- Distal duplication 15q syndrome
- Emery-Dreifuss muscular dystrophy
- Lipodystrophy due to peptidic growth factors deficiency
- Menkes disease
- Microbrachycephaly-ptosis-cleft lip syndrome
- Microcephaly-cervical spine fusion anomalies syndrome
- Monosomy 9q22.3 syndrome
- Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
- Noonan syndrome
- Radioulnar synostosis-developmental delay-hypotonia syndrome
- Ring chromosome 10 syndrome
- Tetrasomy 5p syndrome
- Wrinkly skin syndrome
- X-linked Emery-Dreifuss muscular dystrophy
- Xp22.13p22.2duplication syndrome
- Xq12-q13.3 duplication syndrome
Common30–79%
49- 19p13.13microdeletion syndrome
- Acrocraniofacial dysostosis
- Acrootoocular syndrome
- Allan-Herndon-Dudley syndrome
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- Autosomal dominant Robinow syndrome
- Autosomal recessive Robinow syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Becker nevus syndrome
- Brachyolmia, Maroteaux type
- Cardiac-valvular Ehlers-Danlos syndrome
- Cardiofaciocutaneous syndrome
- Christianson syndrome
- Cleft palate-large ears-small head syndrome
- Congenital muscular dystrophy, Fukuyama type
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- Cranioectodermal dysplasia
- C syndrome
- Eng-Strom syndrome
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- Facioscapulohumeral dystrophy
- Growth delay due to insulin-like growth factor I resistance
- Homocystinuria due to cystathionine beta-synthase deficiency
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Lateral meningocele syndrome
- Lujan-Fryns syndrome
- Malan overgrowth syndrome
- Marden-Walker syndrome
- Marfanoid habitus-autosomal recessive intellectual disability syndrome
- Marfan syndrome
- McDonough syndrome
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- Monosomy 18p syndrome
- Mowat-Wilson syndrome
- Multiple pterygium-malignant hyperthermia syndrome
- Neurofaciodigitorenal syndrome
- Non-distal duplication 10q syndrome
- Noonan syndrome-like disorder with loose anagen hair
- Noonan syndrome with multiple lentigines
- Occipital horn syndrome
- Proximal Xq28 duplication syndrome
- Recombinant 8 syndrome
- Shprintzen-Goldberg syndrome
- Simpson-Golabi-Behmel syndrome
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
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
Pectus excavatum
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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.