U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital pulmonary airway malformation(CCAM)

MedGen UID:
8225
Concept ID:
C0010668
Congenital Abnormality
Synonyms: CCAM; Congenital cystic adenomatoid malformation of the lung
SNOMED CT: Congenital cystic adenomatoid malformation of the lung (111318005); Congenital cystic adenomatoid malformation of lung (111318005); CPAM - Congenital pulmonary airway malformation (111318005); Congenital pulmonary airway malformation (111318005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0010959
Monarch Initiative: MONDO:0016580
Orphanet: ORPHA2444

Definition

Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles. [from HPO]

Conditions with this feature

Young syndrome
MedGen UID:
137934
Concept ID:
C0340037
Disease or Syndrome
Young syndrome is characterized by chronic sinopulmonary infections, persistent azoospermia, and normal spermatogenesis (Handelsman et al., 1984).
Brachymorphism-onychodysplasia-dysphalangism syndrome
MedGen UID:
350585
Concept ID:
C1862082
Disease or Syndrome
A very rare malformation syndrome with characteristics of short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.
SERKAL syndrome
MedGen UID:
394528
Concept ID:
C2678492
Disease or Syndrome
Syndrome that has characteristics of female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. The syndrome is lethal and has been described in three fetuses. It is caused by homozygous missense mutations in the WNT4 gene. It is transmitted as an autosomal recessive trait.
Gastrointestinal defects and immunodeficiency syndrome 1
MedGen UID:
1806192
Concept ID:
C5680044
Disease or Syndrome
Gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency (Samuels et al., 2013; Avitzur et al., 2014; Lemoine et al., 2014). Genetic Heterogeneity of GIDID See also GIDID2 (619708), caused by mutation in the PI4KA gene (600286) on chromosome 22q11.

Professional guidelines

PubMed

Hermelijn SM, Elders BBLJ, Ciet P, Wijnen RMH, Tiddens HAWM, Schnater JM
Paediatr Respir Rev 2021 Mar;37:80-88. Epub 2020 Feb 20 doi: 10.1016/j.prrv.2019.12.004. PMID: 32178987
Tsai PS, Chen CP, Lin DC, Liu YP
Taiwan J Obstet Gynecol 2017 Aug;56(4):425-431. doi: 10.1016/j.tjog.2017.05.001. PMID: 28805595
David M, Lamas-Pinheiro R, Henriques-Coelho T
Neonatology 2016;110(2):101-15. Epub 2016 Apr 13 doi: 10.1159/000440894. PMID: 27070354

Recent clinical studies

Etiology

Avena-Zampieri CL, Hutter J, Rutherford M, Milan A, Hall M, Egloff A, Lloyd DFA, Nanda S, Greenough A, Story L
Am J Obstet Gynecol MFM 2022 Sep;4(5):100693. Epub 2022 Jul 17 doi: 10.1016/j.ajogmf.2022.100693. PMID: 35858660Free PMC Article
Muntean A, Banias LE, Ade-Ajayi N, Patel SB, McKinney O, Davenport M
J Pediatr Surg 2022 Nov;57(11):520-526. Epub 2021 Dec 25 doi: 10.1016/j.jpedsurg.2021.12.018. PMID: 34980466
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
David M, Lamas-Pinheiro R, Henriques-Coelho T
Neonatology 2016;110(2):101-15. Epub 2016 Apr 13 doi: 10.1159/000440894. PMID: 27070354
Puligandla PS, Laberge JM
Clin Perinatol 2012 Jun;39(2):331-47. doi: 10.1016/j.clp.2012.04.009. PMID: 22682383

Diagnosis

Dehner LP, Schultz KAP, Hill DA
Pediatr Dev Pathol 2023 May-Jun;26(3):241-249. Epub 2023 Feb 21 doi: 10.1177/10935266221146823. PMID: 37334833
Hegde BN, Tsao K, Hirose S
Clin Perinatol 2022 Dec;49(4):907-926. doi: 10.1016/j.clp.2022.08.003. PMID: 36328607
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Wong KKY, Flake AW, Tibboel D, Rottier RJ, Tam PKH
Lancet Child Adolesc Health 2018 Apr;2(4):290-297. Epub 2018 Feb 17 doi: 10.1016/S2352-4642(18)30035-X. PMID: 30169300
Puligandla PS, Laberge JM
Clin Perinatol 2012 Jun;39(2):331-47. doi: 10.1016/j.clp.2012.04.009. PMID: 22682383

Therapy

Zhu P, Cheng K, He M, Wang Y, Shen P, He K, Xu C, Zhang B, Liu Z
Orphanet J Rare Dis 2022 Jun 3;17(1):213. doi: 10.1186/s13023-022-02347-0. PMID: 35658911Free PMC Article
Zoeller C, Ure BM, Dingemann J
Eur J Pediatr Surg 2018 Apr;28(2):163-170. Epub 2018 Mar 6 doi: 10.1055/s-0038-1636917. PMID: 29510429
Oh SH, Kim CY, Lee BS, Kim DK, Kim EA, Kim KS
Pediatr Pulmonol 2017 Dec;52(12):1572-1577. Epub 2017 Oct 13 doi: 10.1002/ppul.23835. PMID: 29028157
Downard CD, Calkins CM, Williams RF, Renaud EJ, Jancelewicz T, Grabowski J, Dasgupta R, McKee M, Baird R, Austin MT, Arnold MA, Goldin AB, Shelton J, Islam S
Pediatr Surg Int 2017 Sep;33(9):939-953. Epub 2017 Jun 6 doi: 10.1007/s00383-017-4098-z. PMID: 28589256
Puligandla PS, Laberge JM
Clin Perinatol 2012 Jun;39(2):331-47. doi: 10.1016/j.clp.2012.04.009. PMID: 22682383

Prognosis

Chou JT, Kalantarova A, Borkowska-Kłos M, Kornacki J, Szczapa T, Wender-Ozegowska E
J Matern Fetal Neonatal Med 2023 Dec;36(2):2239424. doi: 10.1080/14767058.2023.2239424. PMID: 37581300
Tan Z, Li F, Chen Q, Chen H, Xue Z, Zhang J, Gao Y, Liang L, Huang T, Zhang S, Li J, Shu Q, Yu L
Respir Res 2023 May 10;24(1):127. doi: 10.1186/s12931-023-02436-z. PMID: 37165378Free PMC Article
Sintim-Damoa A, Cohen HL
Pediatr Radiol 2022 Sep;52(10):1921-1934. Epub 2022 Aug 25 doi: 10.1007/s00247-022-05465-w. PMID: 36002772
Avena-Zampieri CL, Hutter J, Rutherford M, Milan A, Hall M, Egloff A, Lloyd DFA, Nanda S, Greenough A, Story L
Am J Obstet Gynecol MFM 2022 Sep;4(5):100693. Epub 2022 Jul 17 doi: 10.1016/j.ajogmf.2022.100693. PMID: 35858660Free PMC Article
Beksac MS, Fadiloglu E, Tanacan A, Unal C, Tepe NB, Aydın E, Orgul G, Yurdakok M
Rev Bras Ginecol Obstet 2019 Nov;41(11):654-659. Epub 2019 Nov 19 doi: 10.1055/s-0039-1697983. PMID: 31745958Free PMC Article

Clinical prediction guides

Dehner LP, Schultz KAP, Hill DA
Pediatr Dev Pathol 2023 May-Jun;26(3):241-249. Epub 2023 Feb 21 doi: 10.1177/10935266221146823. PMID: 37334833
Zhu P, Cheng K, He M, Wang Y, Shen P, He K, Xu C, Zhang B, Liu Z
Orphanet J Rare Dis 2022 Jun 3;17(1):213. doi: 10.1186/s13023-022-02347-0. PMID: 35658911Free PMC Article
Xu W, Gao Y, Li W, Chen Z, Li Q, Li R, Liu H, Dai L
Pediatr Pulmonol 2022 Mar;57(3):674-681. Epub 2022 Jan 11 doi: 10.1002/ppul.25785. PMID: 34889078
Hall NJ, Stanton MP
Semin Pediatr Surg 2017 Oct;26(5):311-316. Epub 2017 Sep 9 doi: 10.1053/j.sempedsurg.2017.09.001. PMID: 29110827
Sullivan KJ, Li M, Haworth S, Chernetsova E, Wayne C, Kapralik J, Chan E, Nasr A
Pediatr Surg Int 2017 Jun;33(6):665-675. Epub 2017 Mar 14 doi: 10.1007/s00383-017-4079-2. PMID: 28293700

Recent systematic reviews

Zhu P, Cheng K, He M, Wang Y, Shen P, He K, Xu C, Zhang B, Liu Z
Orphanet J Rare Dis 2022 Jun 3;17(1):213. doi: 10.1186/s13023-022-02347-0. PMID: 35658911Free PMC Article
Black AJ, Lu DY, Yefet LS, Baird R
J Pediatr Surg 2020 May;55(5):811-820. Epub 2020 Feb 12 doi: 10.1016/j.jpedsurg.2020.01.016. PMID: 32061363
Zoeller C, Ure BM, Dingemann J
Eur J Pediatr Surg 2018 Apr;28(2):163-170. Epub 2018 Mar 6 doi: 10.1055/s-0038-1636917. PMID: 29510429
Downard CD, Calkins CM, Williams RF, Renaud EJ, Jancelewicz T, Grabowski J, Dasgupta R, McKee M, Baird R, Austin MT, Arnold MA, Goldin AB, Shelton J, Islam S
Pediatr Surg Int 2017 Sep;33(9):939-953. Epub 2017 Jun 6 doi: 10.1007/s00383-017-4098-z. PMID: 28589256
Kapralik J, Wayne C, Chan E, Nasr A
J Pediatr Surg 2016 Mar;51(3):508-12. Epub 2015 Dec 9 doi: 10.1016/j.jpedsurg.2015.11.022. PMID: 26775193

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...