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Congenital pulmonary lymphangiectasia(CPL)

MedGen UID:
340355
Concept ID:
C1849554
Congenital Abnormality
Synonyms: Lymphangiomatosis pulmonary; Pulmonary cystic lymphangiectasis
SNOMED CT: Congenital pulmonary lymphangiectasis (45142002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009933
OMIM®: 265300
Orphanet: ORPHA2414

Definition

Pulmonary lymphangiectasia is a rare congenital vascular dysplasia characterized by an increased number of dilated pulmonary lymphatics in the subpleural, peribronchial, and interlobular septa. Respiratory distress is usually noted immediately after birth (summary by Stevenson et al., 2006). [from OMIM]

Clinical features

From HPO
Pedal edema
MedGen UID:
116085
Concept ID:
C0239340
Pathologic Function
An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.
Mild postnatal growth retardation
MedGen UID:
320640
Concept ID:
C1835580
Finding
A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.
Ascites
MedGen UID:
416
Concept ID:
C0003962
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Chylous ascites
MedGen UID:
969
Concept ID:
C0008732
Disease or Syndrome
Extravasation of chyle into the peritoneal cavity.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Chylothorax
MedGen UID:
40305
Concept ID:
C0008733
Disease or Syndrome
Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.
Pleural effusion
MedGen UID:
10805
Concept ID:
C0032227
Disease or Syndrome
The presence of an excessive amount of fluid in the pleural cavity.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Bronchodysplasia
MedGen UID:
870576
Concept ID:
C4025025
Anatomical Abnormality
Pulmonary lymphangiectasia
MedGen UID:
340882
Concept ID:
C1855480
Finding
Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Lymphedema
MedGen UID:
6155
Concept ID:
C0024236
Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
Palpebral edema
MedGen UID:
57877
Concept ID:
C0162285
Pathologic Function
Edema in the region of the eyelids.
Facial edema
MedGen UID:
154241
Concept ID:
C0542571
Pathologic Function
Swelling due to an excessive accumulation of fluid in facial tissues.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Absence of concavity or convexity of the face when viewed in profile.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Non-immune hydrops fetalis
MedGen UID:
105327
Concept ID:
C0455988
Disease or Syndrome
Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital pulmonary lymphangiectasia
Follow this link to review classifications for Congenital pulmonary lymphangiectasia in Orphanet.

Professional guidelines

PubMed

Itkin M, Chidekel A, Ryan KA, Rabinowitz D
Paediatr Respir Rev 2020 Nov;36:15-24. Epub 2020 Jul 10 doi: 10.1016/j.prrv.2020.07.001. PMID: 32792289
Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326

Recent clinical studies

Etiology

Yuan SM
Klin Padiatr 2017 Jul;229(4):205-208. Epub 2017 Jul 17 doi: 10.1055/s-0043-112500. PMID: 28718185
Herrmann JL, Irons ML, Mascio CE, Rychik J, Spray TL, Gaynor JW, Pogoriler JE
Cardiol Young 2017 Sep;27(7):1356-1360. Epub 2017 Mar 13 doi: 10.1017/S1047951117000348. PMID: 28287055
An X, Wang J, Zhuang X, Dai J, Lu C, Li X, Yan Y
Am J Perinatol 2015 Nov;32(13):1231-9. Epub 2015 Jun 12 doi: 10.1055/s-0035-1552934. PMID: 26070120
Toru HS, Sanhal CY, Yilmaz GT, Ozbudak IH, Mendilcioglu I, Ozbilim G
J Matern Fetal Neonatal Med 2015 Aug;28(12):1457-60. Epub 2015 Jan 8 doi: 10.3109/14767058.2014.956719. PMID: 25142108
Yalcin S, Ciftci A, Karnak I, Ekinci S, Tanyel FC, Şenocak M
Eur J Pediatr Surg 2013 Apr;23(2):115-20. Epub 2012 Aug 17 doi: 10.1055/s-0032-1323159. PMID: 22903249

Diagnosis

Yuan SM
Klin Padiatr 2017 Jul;229(4):205-208. Epub 2017 Jul 17 doi: 10.1055/s-0043-112500. PMID: 28718185
Herrmann JL, Irons ML, Mascio CE, Rychik J, Spray TL, Gaynor JW, Pogoriler JE
Cardiol Young 2017 Sep;27(7):1356-1360. Epub 2017 Mar 13 doi: 10.1017/S1047951117000348. PMID: 28287055
Yuan SM
J Perinat Med 2017 Dec 20;45(9):1023-1030. doi: 10.1515/jpm-2016-0407. PMID: 28258976
Bellini C, Boccardo F, Campisi C, Bonioli E
Orphanet J Rare Dis 2006 Oct 30;1:43. doi: 10.1186/1750-1172-1-43. PMID: 17074089Free PMC Article
Bellini C, Boccardo F, Campisi C, Toma P, Taddei G, Villa G, Nozza P, Serra G, Bonioli E
Lymphology 2005 Sep;38(3):111-21. PMID: 16353488

Therapy

Malleske DT, Yoder BA
J Perinatol 2015 May;35(5):384-6. doi: 10.1038/jp.2015.10. PMID: 25917021
Gray M, Kovatis KZ, Stuart T, Enlow E, Itkin M, Keller MS, French HM
J Perinatol 2014 Sep;34(9):720-2. doi: 10.1038/jp.2014.71. PMID: 25179384
Oppermann HC, Wille L, Bleyl U, Obladen M
Pediatr Radiol 1977 Mar 17;5(3):137-41. doi: 10.1007/BF00973978. PMID: 846760

Prognosis

Yuan SM
Klin Padiatr 2017 Jul;229(4):205-208. Epub 2017 Jul 17 doi: 10.1055/s-0043-112500. PMID: 28718185
Yuan SM
J Perinat Med 2017 Dec 20;45(9):1023-1030. doi: 10.1515/jpm-2016-0407. PMID: 28258976
Toru HS, Sanhal CY, Yilmaz GT, Ozbudak IH, Mendilcioglu I, Ozbilim G
J Matern Fetal Neonatal Med 2015 Aug;28(12):1457-60. Epub 2015 Jan 8 doi: 10.3109/14767058.2014.956719. PMID: 25142108
Hwang JH, Kim JH, Hwang JJ, Kim KS, Kim SY
J Korean Med Sci 2014 Apr;29(4):609-13. Epub 2014 Apr 1 doi: 10.3346/jkms.2014.29.4.609. PMID: 24753713Free PMC Article
Bellini C, Boccardo F, Campisi C, Bonioli E
Orphanet J Rare Dis 2006 Oct 30;1:43. doi: 10.1186/1750-1172-1-43. PMID: 17074089Free PMC Article

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