Pectus excavatum
Symptom Information:
Symptom ID: | HPO:0000767 | |||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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) |
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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) |