Rare Pediatrics News

Disease Profile

Congenital pulmonary lymphangiectasia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

Q33.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

CPL; Lymphangiomatosis pulmonary; Pulmonary cystic lymphangiectasis;

Categories

Blood Diseases; Congenital and Genetic Diseases; Lung Diseases

Summary

Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder that affects the lungs. It is present from birth and usually becomes apparent in the first few days of life with respiratory failure.[1] It sometimes is apparent before birth with non-immune hydrops fetalis and pleural effusion (fluid in the lung).[1] Infants with CPL often develop severe, potentially life-threatening, respiratory distress shortly after birth. They may also develop cyanosis caused by low oxygen levels in the blood, which causes the skin to have a bluish tint. Symptoms are due to abnormally wide (dilated) lymphatic vessels within the lungs.[1][2] These vessels drain a fluid called lymph from different areas of the body. They are an important part of the lymphatic system, which helps the immune system protect the body against infection and disease.[2]

The underlying cause of CPL is unknown. It can occur as a primary or secondary disorder (due to another underlying condition). Primary CPL occurs as an isolated defect or as part of a generalized form of lymphatic disease affecting the whole body. Secondary CPL can occur due to a variety of heart abnormalities or lymphatic obstruction.[2] Some cases of CPL have been associated with genetic disorders.[2][1]

Treatment aims to relieve the symptoms of the disorder and may include CPAP, intubation, and/or fluid drainage. While much of the older literature suggests a very high mortality rate, recent studies suggest that CPL does not have as poor an outlook.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cyanosis
Blue discoloration of the skin
0000961
Pleural effusion
Fluid around lungs
0002202
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

 0002098
30%-79% of people have these symptoms
Ascites
Accumulation of fluid in the abdomen
0001541
Chronic pulmonary obstruction
0006510
Chylopericardium
0011852
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

 0001635
Cough
Coughing
0012735
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

 0002020
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

 0001510
Hydrops fetalis
0001789
5%-29% of people have these symptoms
Hepatomegaly
Enlarged liver
0002240
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Splenomegaly
Increased spleen size
0001744
Tricuspid regurgitation
0005180
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Bronchodysplasia
0006533
Chylothorax
0010310
Chylous ascites
0012281
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

 0005280
Facial edema
Facial puffiness
Facial swelling

[ more ]

 0000282
Flat face
Flat facial shape
0012368
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

 0000316
Malar flattening
Zygomatic flattening
0000272
Mild postnatal growth retardation
0001530
Nonimmune hydrops fetalis
0001790
Palpebral edema
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids

[ more ]

 0100540
Pectus excavatum
Funnel chest
0000767
Pedal edema
Fluid accumulation in lower limbs
Lower leg swelling

[ more ]

 0010741
Polyhydramnios
High levels of amniotic fluid
0001561
Pulmonary lymphangiectasia
0006521
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

 0002205
Variable expressivity
0003828
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

 0000431
Do you have updated information on this disease? We want to hear from you.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital pulmonary lymphangiectasia. Click on the link to view a sample search on this topic.

        References

        1. Toru HS, Sanhal CY, Yilmaz GT, Ozbudak IH, Mendilcioglu I, Ozbilim G. Rare congenital pulmonary malformation with diagnostic challenging: congenital pulmonary lymphangiectasia, report of four autopsy cases and review of literature. J Matern Fetal Neonatal Med. August, 2015; 28(12):1457-1460.
        2. Bonioli E, Bellini C. Congenital Pulmonary Lymphangiectasia. National Organization for Rare Disorders (NORD). 2012; https://rarediseases.org/rare-diseases/congenital-pulmonary-lymphangiectasia/.
        3. Carlo Bellini, Francesco Boccardo, Corradino Campisi, and Eugenio Bonioli. Congenital pulmonary lymphangiectasia. Orphanet J Rare Dis. 2006; 1:43:
        4. Reiterer F, Grossauer K, Pfleger A, Häusler M, Resch B, Eber E, Popper H, Urlesberger B. Severe primary pulmonary lymphangiectasis in a premature infant: management and follow up to early childhood. Pediatr Int. 2015; 57(1):166-169.
        5. Gray M, Kovatis KZ, Stuart T, Enlow E, Itkin M, Keller MS, French HM. Treatment of congenital pulmonary lymphangiectasia using ethiodized oil lymphangiography. J Perinatol. September, 2014; 34(9):720-722.
        6. Hwang JH, Kim JH, Hwang JJ, Kim KS, Kim SY. Pneumonectomy case in a newborn with congenital pulmonary lymphangiectasia. J Korean Med Sci. April, 2014; 29(4):609-613.