Pectus excavatum

Symptom Information:

Symptom ID: HPO:0000767
Synonyms:
Funnel chest [HPO:0000767]
Congenital pectus excavatum (disorder) [Orphanet:15680]
Pectus excavatum (disorder) [Orphanet:15680]
Congenital funnel chest [Orphanet:15680]
Funnel chest [OMIM:Funnel chest]
Pectus excavatum [OMIM:Pectus excavatum]
Pectus excavatum [Orphanet:15680]
Pectus excavatum [MedDRA:10034204]
Cobbler's chest [MedDRA:10034204]
Funnel breast [MedDRA:10034204]
Funnel chest [MedDRA:10034204]
Hollowed breast [MedDRA:10034204]
Sternal depression [MedDRA:10034204]
Pectus excavatum (1 patient) [OMIM:Pectus excavatum (1 patient)]
Pectus excavatum (23%) [OMIM:Pectus excavatum (23%)]
Pectus excavatum (31%) [OMIM:Pectus excavatum (31%)]
Pectus excavatum (44%) [OMIM:Pectus excavatum (44%)]
Pectus excavatum (82%) [OMIM:Pectus excavatum (82%)]
Pectus excavatum (in some patients) [OMIM:Pectus excavatum (in some patients)]
Pectus excavatum (inferiorly) [OMIM:Pectus excavatum (inferiorly)]
Pectus excavatum (less common) [OMIM:Pectus excavatum (less common)]
Pectus excavatum (males) [OMIM:Pectus excavatum (males)]
Pectus excavatum (rare) [OMIM:Pectus excavatum (rare)]
Quality:
Cross references:
HPO:0000915 "Pectus excavatum of inferior sternum" [Orphanet:15680]
Orphanet:15680 "Pectus excavatum" [Orphanet:15680]
OMIM: "Funnel chest" [OMIM:Funnel chest]
OMIM: "Pectus excavatum" [OMIM:Pectus excavatum]
OMIM: "Pectus excavatum (1 patient)" [OMIM:Pectus excavatum (1 patient)]
OMIM: "Pectus excavatum (23%)" [OMIM:Pectus excavatum (23%)]
OMIM: "Pectus excavatum (31%)" [OMIM:Pectus excavatum (31%)]
OMIM: "Pectus excavatum (44%)" [OMIM:Pectus excavatum (44%)]
OMIM: "Pectus excavatum (82%)" [OMIM:Pectus excavatum (82%)]
OMIM: "Pectus excavatum (in some patients)" [OMIM:Pectus excavatum (in some patients)]
OMIM: "Pectus excavatum (inferiorly)" [OMIM:Pectus excavatum (inferiorly)]
OMIM: "Pectus excavatum (less common)" [OMIM:Pectus excavatum (less common)]
OMIM: "Pectus excavatum (males)" [OMIM:Pectus excavatum (males)]
OMIM: "Pectus excavatum (rare)" [OMIM:Pectus excavatum (rare)]
UMLS:C0016842 "Congenital funnel chest" [Orphanet:15680]
Is a (Direct Parents):
Orphanet Abnormality of the sternum
HPO         Abnormality of the sternum
MedDRA Thoracic musculoskeletal disorders
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the thorax(HPO:0000765)
                   Abnormality of the sternum(HPO:0000766)
                      Pectus excavatum(HPO:0000767)
MedDRA:
Respiratory, thoracic and mediastinal disorders(MedDRA:10038738)
    Thoracic disorders (excl lung and pleura)(MedDRA:10013369)
       Thoracic musculoskeletal disorders(MedDRA:10043475)
          Pectus excavatum(HPO:0000767)
Database Frequency: 244 / 7739
Resource:

All diseases associated with this symptom:

16p11.2p12.2 microduplication syndrome (Orphanet:261204)
16p13.11 microdeletion syndrome (Orphanet:261236)
16p13.11 microduplication syndrome (Orphanet:261243)
16p13.3 microduplication syndrome (Orphanet:96078)
17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
3M syndrome (Orphanet:2616)
3q29 microdeletion syndrome (Orphanet:65286)
AARSKOG-SCOTT SYNDROME (OMIM:305400)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM (OMIM:104350)
AORTIC ANEURYSM, FAMILIAL THORACIC 9 (OMIM:616166)
Aarskog-Scott syndrome (Orphanet:915)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acro-oto-ocular syndrome (Orphanet:2980)
Acro-pectoral syndrome (Orphanet:85203)
Acrocapitofemoral dysplasia (Orphanet:63446)
Acrocraniofacial dysostosis (Orphanet:949)
Acrofacial dysostosis, Catania type (Orphanet:1786)
Acropectorovertebral dysplasia (Orphanet:957)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies (Orphanet:1101)
Arachnodactyly - abnormal ossification - intellectual deficit (Orphanet:1129)
Arterial tortuosity syndrome (Orphanet:3342)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Auriculoocular anomalies - cleft lip (Orphanet:71270)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive cutis laxa type 1 (Orphanet:90349)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
Autosomal recessive limb-girdle muscular dystrophy type 2M (Orphanet:206554)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Becker nevus syndrome (Orphanet:64755)
Bifunctional enzyme deficiency (Orphanet:300)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
Brachydactyly-long thumb syndrome (Orphanet:2946)
Brachyolmia, Maroteaux type (Orphanet:93302)
Braddock syndrome (Orphanet:52047)
Branchio-skeleto-genital syndrome (Orphanet:1299)
C syndrome (Orphanet:1308)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
CARPENTER SYNDROME 2 (OMIM:614976)
CATEL-MANZKE SYNDROME (OMIM:616145)
CHROMOSOME 15q25 DELETION SYNDROME (OMIM:614294)
CLAPO syndrome (Orphanet:168984)
COLE-CARPENTER SYNDROME 2 (OMIM:616294)
COWDEN SYNDROME 5 (OMIM:615108)
COWDEN SYNDROME 6 (OMIM:615109)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
CREE MENTAL RETARDATION SYNDROME (OMIM:606851)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Camptodactyly - tall stature - scoliosis - hearing loss (Orphanet:85164)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Camptodactyly syndrome, Guadalajara type 2 (Orphanet:1326)
Cap myopathy (Orphanet:171881)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cataract - hypertrichosis - intellectual deficit (Orphanet:1375)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Catel-Manzke syndrome (Orphanet:1388)
Christianson syndrome (Orphanet:85278)
Classical homocystinuria (Orphanet:394)
Cleft palate - large ears - small head (Orphanet:2013)
Coffin-Lowry syndrome (Orphanet:192)
Cohen syndrome (Orphanet:193)
Congenital fiber-type disproportion myopathy (Orphanet:2020)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
Congenital pulmonary lymphangiectasia (Orphanet:2414)
Cornelia de Lange syndrome (Orphanet:199)
Costello syndrome (Orphanet:3071)
Cowden syndrome (Orphanet:201)
Cranio-osteoarthropathy (Orphanet:1525)
Cranioectodermal dysplasia (Orphanet:1515)
Cranioectodermal dysplasia 1 (OMIM:218330)
Cranioectodermal dysplasia 2 (OMIM:613610)
Cranioectodermal dysplasia 4 (OMIM:614378)
Craniofacial dysplasia-osteopenia syndrome (Orphanet:314555)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Craniofrontonasal dysplasia (Orphanet:1520)
Cutis laxa (Orphanet:209)
DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
De Barsy syndrome (Orphanet:2962)
Distal monosomy 7q36 (Orphanet:1636)
Distal trisomy 15q (Orphanet:1707)
Distal trisomy 18q (Orphanet:1716)
Dubowitz syndrome (Orphanet:235)
Dysmorphism - conductive hearing loss - heart defect (Orphanet:289553)
Dysostosis, Stanescu type (Orphanet:1798)
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES (OMIM:609944)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (OMIM:615349)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ehlers-Danlos syndrome type 1 (Orphanet:90309)
Ehlers-Danlos syndrome type 2 (Orphanet:90318)
Ehlers-Danlos syndrome, cardiac valvular type (Orphanet:230851)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Emery-Dreifuss muscular dystrophy (Orphanet:261)
Eng-Strom syndrome (Orphanet:1937)
FACES syndrome (Orphanet:1969)
FACIOTHORACOGENITAL SYNDROME (OMIM:227320)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C (OMIM:609384)
FRONTOOCULAR SYNDROME (OMIM:605321)
Fine-Lubinsky syndrome (Orphanet:1272)
Fragile X syndrome (Orphanet:908)
Frank-Ter Haar syndrome (Orphanet:137834)
GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Geleophysic dysplasia (Orphanet:2623)
Gordon syndrome (Orphanet:376)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES (OMIM:614684)
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
Hallermann-Streiff syndrome (Orphanet:2108)
Hennekam syndrome (Orphanet:2136)
Holt-Oram syndrome (Orphanet:392)
Hypertelorism, Teebi type (Orphanet:1519)
Hypophosphatemic rickets (Orphanet:437)
Ichthyosis-cheek-eyebrow syndrome (Orphanet:2267)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, X-linked - cubitus valgus - dysmorphism (Orphanet:85280)
Intellectual deficit, X-linked, Abidi type (Orphanet:85273)
Intellectual deficit, X-linked, Brooks type (Orphanet:3056)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (Orphanet:369837)
Jacobsen syndrome (Orphanet:2308)
Koolen-De Vries syndrome (Orphanet:96169)
LEOPARD SYNDROME 1 (OMIM:151100)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Lateral meningocele syndrome (Orphanet:2789)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lhermitte-Duclos disease (Orphanet:65285)
Lichstenstein syndrome (Orphanet:2390)
Lipodystrophy due to peptidic growth factors deficiency (Orphanet:1979)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
MARFANOID HYPERMOBILITY SYNDROME (OMIM:154750)
MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
MGAT2-CDG (Orphanet:79329)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Marden-Walker syndrome (Orphanet:2461)
Marfan syndrome (Orphanet:558)
Marfan syndrome type 1 (Orphanet:284963)
Marfanoid habitus - intellectual deficit, autosomal recessive (Orphanet:2463)
Marshall-Smith syndrome (Orphanet:561)
McDonough syndrome (Orphanet:2471)
Menkes disease (Orphanet:565)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephaly - cervical spine fusion anomalies (Orphanet:2522)
Monosomy 18p (Orphanet:1598)
Monosomy 9q22.3 (Orphanet:77301)
Mowat-Wilson syndrome (Orphanet:2152)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mulibrey nanism (Orphanet:2576)
Multiple endocrine neoplasia type 2 (Orphanet:653)
Multiple endocrine neoplasia type 2B (Orphanet:247709)
Multiple epiphyseal dysplasia, Al-Gazali type (Orphanet:166024)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Multiple synostoses syndrome (Orphanet:3237)
Nail-patella syndrome (Orphanet:2614)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Non-distal trisomy 10q (Orphanet:1695)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMALRECESSIVE (OMIM:258650)
OSTEOGENESIS IMPERFECTA, TYPE IX (OMIM:259440)
OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
OTOFACIOOSSEOUS-GONADAL SYNDROME (OMIM:601976)
Occipital horn syndrome (Orphanet:198)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Opitz G/BBB syndrome (Orphanet:2745)
Opsismodysplasia (Orphanet:2746)
Orofaciodigital syndrome type 2 (Orphanet:2751)
Orofaciodigital syndrome type 3 (Orphanet:2752)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteogenesis imperfecta (Orphanet:666)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 1 (Orphanet:90650)
Otopalatodigital syndrome type 2 (Orphanet:90652)
PECTUS EXCAVATUM (OMIM:169300)
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS (OMIM:600399)
PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES (OMIM:602196)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Pectus excavatum - macrocephaly - dysplastic nails (Orphanet:2835)
Peters-plus syndrome (Orphanet:709)
Pilotto syndrome (Orphanet:2894)
Polyvalvular heart disease syndrome (Orphanet:228410)
Postaxial acrofacial dysostosis (Orphanet:246)
Postaxial polydactyly - dental and vertebral anomalies (Orphanet:2916)
Proteus-like syndrome (Orphanet:2969)
Prune belly syndrome (Orphanet:2970)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Qazi-Markouizos syndrome (Orphanet:3010)
RIENHOFF SYNDROME (OMIM:615582)
RUIJS-AALFS SYNDROME (OMIM:616200)
Radio-ulnar synostosis - intellectual deficit - hypotonia (Orphanet:3270)
Recombinant 8 syndrome (Orphanet:96167)
Renpenning syndrome (Orphanet:3242)
Ring chromosome 10 (Orphanet:1438)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS (OMIM:609654)
STICKLER SYNDROME, TYPE I (OMIM:108300)
Schwartz-Jampel syndrome (Orphanet:800)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short-limb skeletal dysplasia with severe combined immunodeficiency (Orphanet:935)
Shoulder and thorax deformity - congenital heart disease (Orphanet:1940)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Spondylocarpotarsal synostosis (Orphanet:3275)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 3 (Orphanet:166100)
Subaortic stenosis - short stature (Orphanet:3191)
Symptomatic form of Coffin-Lowry syndrome in female carriers (Orphanet:276630)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
THORACIC DYSOSTOSIS, ISOLATED (OMIM:187750)
THREE M SYNDROME 1 (OMIM:273750)
TMCO1 defect syndrome (Orphanet:228407)
Thrombocytopenia - Robin sequence (Orphanet:3323)
Trisomy X (Orphanet:3375)
Trisomy Xq28 (Orphanet:1762)
Van den Ende-Gupta syndrome (Orphanet:2460)
WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Williams syndrome (Orphanet:904)
Wrinkly skin syndrome (Orphanet:2834)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
X-linked mandibulofacial dysostosis (Orphanet:1131)
[DEL]EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)