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Abnormal thorax morphology

MedGen UID:
867424
Concept ID:
C4021797
Anatomical Abnormality
Synonym: Abnormality of the thorax
 
HPO: HP:0000765

Definition

Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal thorax morphology

Conditions with this feature

Pyle metaphyseal dysplasia
MedGen UID:
82704
Concept ID:
C0265294
Disease or Syndrome
Pyle disease is characterized by long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility. Fractures are common in Pyle disease, and fracture lines usually go through the abnormally wide metaphyses, revealing their fragility (summary by Kiper et al., 2016).
Supernumerary nipple
MedGen UID:
120564
Concept ID:
C0266011
Congenital Abnormality
Presence of more than two nipples.
Chondrodysplasia punctata 2 X-linked dominant
MedGen UID:
79381
Concept ID:
C0282102
Disease or Syndrome
The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including females with no recognizable physical abnormalities. At least 95% of live-born individuals with CDPX2 are female. Characteristic features include growth deficiency; distinctive craniofacial appearance; chondrodysplasia punctata (stippling of the epiphyses of the long bones, vertebrae, trachea, and distal ends of the ribs); often asymmetric rhizomelic shortening of limbs; scoliosis; linear or blotchy scaling ichthyosis in the newborn; later appearance of linear or whorled atrophic patches involving hair follicles (follicular atrophoderma); coarse hair with scarring alopecia; and cataracts.
Familial juvenile hypertrophy of the breast
MedGen UID:
140798
Concept ID:
C0405471
Disease or Syndrome
Familial juvenile hypertrophy of the breast (JHB) is a rare condition characterized by gigantomastia in peripubertal females. The pathology is limited to the breast with otherwise normal growth and development (summary by Genzer-Nir et al., 2010). A syndrome has been described in which affected females display JHB in association with onychodystrophy/anonychia and abnormalities of the distal phalanges (ODP; see 106995), whereas males have only ODP (mammary-digital-nail syndrome; 613689).
Oculocerebrocutaneous syndrome
MedGen UID:
163214
Concept ID:
C0796092
Disease or Syndrome
A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.
Sialic acid storage disease, severe infantile type
MedGen UID:
203367
Concept ID:
C1096902
Disease or Syndrome
Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Salla disease was named for a municipality in Finnish Lapland where a specific founder variant is relatively prevalent. However, the term Salla has been used in the literature to refer to less severe FSASD. More severe FSASD is historically referred to as ISSD, and is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood.
Congenital fascial dystrophy
MedGen UID:
226997
Concept ID:
C1302740
Congenital Abnormality
Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
MedGen UID:
316973
Concept ID:
C1832362
Disease or Syndrome
A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.
Ophthalmomandibulomelic dysplasia
MedGen UID:
331604
Concept ID:
C1833872
Disease or Syndrome
Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested.
Ichthyosis-cheek-eyebrow syndrome
MedGen UID:
326697
Concept ID:
C1840283
Disease or Syndrome
Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.
Lethal congenital contracture syndrome 1
MedGen UID:
344338
Concept ID:
C1854664
Disease or Syndrome
Autosomal recessive lethal congenital contracture syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see 108120), a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). Genetic Heterogeneity of Lethal Congenital Contracture Syndrome See also lethal congenital contracture syndrome-2 (LCCS2; 607598), caused by mutation in the ERBB3 gene (190151); LCCS3 (611369), caused by mutation in the PIP5K1C gene (606102); LCCS4 (614915), caused by mutation in the MYBPC1 gene (160794); LCCS5 (615368), caused by mutation in the DNM2 gene (602378); LCCS6 (616248), caused by mutation in the ZBTB42 gene (613915); LCCS7 (616286), caused by mutation in the CNTNAP1 gene (602346); LCCS8 (616287), caused by mutation in the ADCY6 gene (600294); LCCS9 (616503), caused by mutation in the ADGRG6 gene (612243); LCCS10 (617022), caused by mutation in the NEK9 gene (609798); and LCCS11 (617194), caused by mutation in the GLDN gene (608603).
Short-limb skeletal dysplasia with severe combined immunodeficiency
MedGen UID:
348040
Concept ID:
C1860168
Disease or Syndrome
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.
Acropectorovertebral dysplasia
MedGen UID:
400262
Concept ID:
C1863307
Disease or Syndrome
Acropectorovertebral dysgenesis, or F syndrome, is an autosomal dominant skeletal dysplasia characterized by carpal and tarsal synostoses, syndactyly between the first and second fingers, hypodactyly and polydactyly of feet, and abnormalities of the sternum and spine (summary by Thiele et al., 2004).
Craniometaphyseal dysplasia, autosomal recessive
MedGen UID:
419753
Concept ID:
C2931244
Disease or Syndrome
Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997). The delineation of separate autosomal dominant (CMDD; 123000) and autosomal recessive forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, whereas the recessive form is rare, severe, and possibly heterogeneous.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
MedGen UID:
424833
Concept ID:
C2936858
Congenital Abnormality
21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some individuals. A classic form with severe enzyme deficiency and prenatal onset of virilization is distinguished from a non-classic form with mild enzyme deficiency and postnatal onset. The classic form is further divided into the simple virilizing form (~25% of affected individuals) and the salt-wasting form, in which aldosterone production is inadequate (=75% of individuals). Newborns with salt-wasting 21-OHD CAH are at risk for life-threatening salt-wasting crises. Individuals with the non-classic form of 21-OHD CAH present postnatally with signs of hyperandrogenism; females with the non-classic form are not virilized at birth.
Hiatus hernia
MedGen UID:
483347
Concept ID:
C3489393
Disease or Syndrome
The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.
Galactorrhea
MedGen UID:
777088
Concept ID:
C3665358
Disease or Syndrome
Excessive secretion of breast milk.

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PubMed

Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K
Eur J Hum Genet 2023 Nov;31(11):1251-1260. Epub 2023 Aug 30 doi: 10.1038/s41431-023-01445-2. PMID: 37644171Free PMC Article
Alapati D, Shaffer TH
Respir Med 2017 Oct;131:18-26. Epub 2017 Aug 1 doi: 10.1016/j.rmed.2017.07.063. PMID: 28947027Free PMC Article
Rossi AC, Prefumo F
Eur J Obstet Gynecol Reprod Biol 2017 Mar;210:201-206. Epub 2016 Dec 29 doi: 10.1016/j.ejogrb.2016.12.024. PMID: 28061423

Recent clinical studies

Etiology

Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G
Jpn J Radiol 2020 Mar;38(3):193-206. Epub 2020 Jan 21 doi: 10.1007/s11604-020-00920-w. PMID: 31965514
Shroff GS, Truong MT, Carter BW, Benveniste MF, Kanagal-Shamanna R, Rauch G, Viswanathan C, Boddu PC, Daver N, Wu CC
Radiographics 2019 Jan-Feb;39(1):44-61. doi: 10.1148/rg.2019180069. PMID: 30620703
Carter BW, Benveniste MF, Madan R, Godoy MC, de Groot PM, Truong MT, Rosado-de-Christenson ML, Marom EM
Radiographics 2017 Mar-Apr;37(2):413-436. Epub 2017 Jan 27 doi: 10.1148/rg.2017160095. PMID: 28129068
Bush A
Indian J Pediatr 2015 Sep;82(9):833-40. Epub 2015 Jun 23 doi: 10.1007/s12098-015-1800-9. PMID: 26096865
Desmarais TJ, Keller MS
Curr Opin Pediatr 2013 Jun;25(3):375-81. doi: 10.1097/MOP.0b013e3283604088. PMID: 23657247

Diagnosis

Giuffrida M, Perrone G, Abu-Zidan F, Agnoletti V, Ansaloni L, Baiocchi GL, Bendinelli C, Biffl WL, Bonavina L, Bravi F, Carcoforo P, Ceresoli M, Chichom-Mefire A, Coccolini F, Coimbra R, de'Angelis N, de Moya M, De Simone B, Di Saverio S, Fraga GP, Galante J, Ivatury R, Kashuk J, Kelly MD, Kirkpatrick AW, Kluger Y, Koike K, Leppaniemi A, Maier RV, Moore EE, Peitzmann A, Sakakushev B, Sartelli M, Sugrue M, Tian BWCA, Broek RT, Vallicelli C, Wani I, Weber DG, Docimo G, Catena F
World J Emerg Surg 2023 Jul 26;18(1):43. doi: 10.1186/s13017-023-00510-x. PMID: 37496073Free PMC Article
Carter BW, Benveniste MF, Madan R, Godoy MC, de Groot PM, Truong MT, Rosado-de-Christenson ML, Marom EM
Radiographics 2017 Mar-Apr;37(2):413-436. Epub 2017 Jan 27 doi: 10.1148/rg.2017160095. PMID: 28129068
Rossi AC, Prefumo F
Eur J Obstet Gynecol Reprod Biol 2017 Mar;210:201-206. Epub 2016 Dec 29 doi: 10.1016/j.ejogrb.2016.12.024. PMID: 28061423
Coelho Mde S, Guimarães Pde S
J Bras Pneumol 2007 Jul-Aug;33(4):463-74. doi: 10.1590/s1806-37132007000400017. PMID: 17982540
Nicolaides KH, Azar GB
Fetal Diagn Ther 1990;5(3-4):153-64. doi: 10.1159/000263586. PMID: 2130840

Therapy

Chirica M, Kelly MD, Siboni S, Aiolfi A, Riva CG, Asti E, Ferrari D, Leppäniemi A, Ten Broek RPG, Brichon PY, Kluger Y, Fraga GP, Frey G, Andreollo NA, Coccolini F, Frattini C, Moore EE, Chiara O, Di Saverio S, Sartelli M, Weber D, Ansaloni L, Biffl W, Corte H, Wani I, Baiocchi G, Cattan P, Catena F, Bonavina L
World J Emerg Surg 2019;14:26. Epub 2019 May 31 doi: 10.1186/s13017-019-0245-2. PMID: 31164915Free PMC Article
Johnson SR, Taveira-DaSilva AM, Moss J
Clin Chest Med 2016 Sep;37(3):389-403. doi: 10.1016/j.ccm.2016.04.002. PMID: 27514586
Hysinger EB, Panitch HB
Paediatr Respir Rev 2016 Jan;17:9-15. Epub 2015 Mar 17 doi: 10.1016/j.prrv.2015.03.002. PMID: 25962857
Baruteau AE, Probst V, Abriel H
Curr Opin Cardiol 2015 Jan;30(1):33-9. doi: 10.1097/HCO.0000000000000134. PMID: 25426816
Sánchez-Salas MP, Latasa de Aranibar FJ, Oncíns Torres R, Gambó Grasa P
Skinmed 2011 Jan-Feb;9(1):65-6. PMID: 21409967

Prognosis

Sintim-Damoa A, Cohen HL
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Yoon SH, Kim WK, Dhoble A, Milhorini Pio S, Babaliaros V, Jilaihawi H, Pilgrim T, De Backer O, Bleiziffer S, Vincent F, Shmidt T, Butter C, Kamioka N, Eschenbach L, Renker M, Asami M, Lazkani M, Fujita B, Birs A, Barbanti M, Pershad A, Landes U, Oldemeyer B, Kitamura M, Oakley L, Ochiai T, Chakravarty T, Nakamura M, Ruile P, Deuschl F, Berman D, Modine T, Ensminger S, Kornowski R, Lange R, McCabe JM, Williams MR, Whisenant B, Delgado V, Windecker S, Van Belle E, Sondergaard L, Chevalier B, Mack M, Bax JJ, Leon MB, Makkar RR; Bicuspid Aortic Valve Stenosis Transcatheter Aortic Valve Replacement Registry Investigators
J Am Coll Cardiol 2020 Sep 1;76(9):1018-1030. doi: 10.1016/j.jacc.2020.07.005. PMID: 32854836
Hachulla AL, Lador F, Soccal PM, Montet X, Beghetti M
Swiss Med Wkly 2016;146:w14328. Epub 2016 Aug 6 doi: 10.4414/smw.2016.14328. PMID: 27497375
Tovar JA
Orphanet J Rare Dis 2012 Jan 3;7:1. doi: 10.1186/1750-1172-7-1. PMID: 22214468Free PMC Article
Golladay ES, Golladay GJ
Indian J Pediatr 1997 May-Jun;64(3):339-50. doi: 10.1007/BF02845203. PMID: 10771855

Clinical prediction guides

Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J
J Med Genet 2022 Jun;59(6):559-567. Epub 2021 Apr 5 doi: 10.1136/jmedgenet-2020-107595. PMID: 33820833Free PMC Article
Yoon SH, Kim WK, Dhoble A, Milhorini Pio S, Babaliaros V, Jilaihawi H, Pilgrim T, De Backer O, Bleiziffer S, Vincent F, Shmidt T, Butter C, Kamioka N, Eschenbach L, Renker M, Asami M, Lazkani M, Fujita B, Birs A, Barbanti M, Pershad A, Landes U, Oldemeyer B, Kitamura M, Oakley L, Ochiai T, Chakravarty T, Nakamura M, Ruile P, Deuschl F, Berman D, Modine T, Ensminger S, Kornowski R, Lange R, McCabe JM, Williams MR, Whisenant B, Delgado V, Windecker S, Van Belle E, Sondergaard L, Chevalier B, Mack M, Bax JJ, Leon MB, Makkar RR; Bicuspid Aortic Valve Stenosis Transcatheter Aortic Valve Replacement Registry Investigators
J Am Coll Cardiol 2020 Sep 1;76(9):1018-1030. doi: 10.1016/j.jacc.2020.07.005. PMID: 32854836
Toepfer CN, Garfinkel AC, Venturini G, Wakimoto H, Repetti G, Alamo L, Sharma A, Agarwal R, Ewoldt JK, Cloonan P, Letendre J, Lun M, Olivotto I, Colan S, Ashley E, Jacoby D, Michels M, Redwood CS, Watkins HC, Day SM, Staples JF, Padrón R, Chopra A, Ho CY, Chen CS, Pereira AC, Seidman JG, Seidman CE
Circulation 2020 Mar 10;141(10):828-842. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.042339. PMID: 31983222Free PMC Article
Jancelewicz T, Brindle ME
Semin Perinatol 2020 Feb;44(1):151165. Epub 2019 Jul 31 doi: 10.1053/j.semperi.2019.07.004. PMID: 31676044
Willital GH, Saxena AK, Schütze U, Richter W
World J Pediatr 2011 May;7(2):118-23. Epub 2011 May 15 doi: 10.1007/s12519-011-0263-y. PMID: 21574027

Recent systematic reviews

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Clin Genet 2023 Mar;103(3):261-267. Epub 2022 Oct 24 doi: 10.1111/cge.14245. PMID: 36210598
Teter KA, Maldonado TM, Adelman MA
J Vasc Surg Venous Lymphat Disord 2018 May;6(3):408-413. doi: 10.1016/j.jvsv.2017.11.014. PMID: 29661366
Popieluszko P, Henry BM, Sanna B, Hsieh WC, Saganiak K, Pękala PA, Walocha JA, Tomaszewski KA
J Vasc Surg 2018 Jul;68(1):298-306.e10. Epub 2017 Aug 31 doi: 10.1016/j.jvs.2017.06.097. PMID: 28865978
Luo F, Annane D, Orlikowski D, He L, Yang M, Zhou M, Liu GJ
Cochrane Database Syst Rev 2017 Dec 4;12(12):CD008380. doi: 10.1002/14651858.CD008380.pub2. PMID: 29199768Free PMC Article
Rossi AC, Prefumo F
Eur J Obstet Gynecol Reprod Biol 2017 Mar;210:201-206. Epub 2016 Dec 29 doi: 10.1016/j.ejogrb.2016.12.024. PMID: 28061423

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