Rare Pulmonology News

Disease Profile

Cystic hygroma

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.


US Estimated

Europe Estimated

Age of onset





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


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.


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.


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


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.


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.


Not applicable


Other names (AKA)

Macrocystic lymphatic malformation; Cystic lymphangioma


Congenital and Genetic Diseases


A cystic hygroma is a fluid-filled sac that results from a blockage in the lymphatic system. It is most commonly located in the neck or head area, but can be located anywhere in the body. It may be discovered in a fetus during a pregnancy ultrasound, or it may be apparent at birth as a soft bulge under the skin. When it is identified on pregnancy ultrasound, there is an increased risk for miscarriage. In some cases, it is not discovered until a person is older.[1] Symptoms can vary depending on its size and specific location, and it can potentially cause problems with nearby structures or organs.[2]

A cystic hygroma may be caused by genetic or environmental factors that cause abnormal development of the lymphatic vascular system during embryonic growth. It may occur on its own or as part of a genetic syndrome with other features, such as Turner syndrome, Down syndrome or Noonan syndrome.[2] In adults it may result from trauma, or from earlier respiratory infections.[3] In many cases, the cause is not known.[2]

Treatment involves removing the cystic hygroma, although removing all of it may not be possible. Other treatments that have been tried with limited success include chemotherapy, injection of sclerosing medicines, radiation therapy, and steroids.[1]


The signs and symptoms of a cystic hygroma can vary depending on its size and location. Regardless of size, a cystic hygroma can potentially cause functional impairment of nearby structures or organs, as well as disfigurement of affected areas.[2] When identified after birth, it most often looks like a soft bulge under the skin.[1] The overlying skin may have a bluish tint.[4] The cystic hygroma typically grows as the child grows, and may become apparent after a sudden increase in size, due to an infection or bleeding within the cyst.[1][4] Feeding difficulties and failure to thrive may be present. Rarely, a child with a cystic hygroma may have symptoms of obstructive sleep apnea. Other symptoms or complications may include airway obstruction, hemorrhage, infection, or deformation of surrounding bony structures or teeth (if it is left untreated).[4]

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:
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
Fetal cystic hygroma
Hydrops fetalis


Treatment options for a cystic hygroma depend on the size, location and symptoms present. Options may include surgery (recommended when possible), percutaneous drainage, sclerotherapy, laser therapy, radiofrequency ablation, or medical therapy. These different treatment options may be used in various combinations.[2] When surgery removes all abnormal tissue, the chance of complete recovery is good. If complete removal is not obtained, the cystic hygroma will often return.[1] In very rare cases, a cystic hygroma will shrink or go away without treatment.[2][5]


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

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • 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

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        Cystic Hygroma
        Cystic Hygroma Imaging
      • 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. 
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Cystic hygroma. Click on the link to view a sample search on this topic.


        1. Cystic hygroma. MedlinePlus. August 5, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000148.htm.
        2. Lymphatic Malformations. NORD. 2016; https://rarediseases.org/rare-diseases/lymphatic-malformations/.
        3. Bahl S, Shah V, Anchlia S & Vyas S.. Adult-onset cystic hygroma: A case report of rare entity. Indian Journal of Dentistry. 2016; 7(1):51-54.
        4. Acevedo JL. Lymphatic Malformation (Cystic Hygroma). Medscape Reference. August 29, 2016; https://emedicine.medscape.com/article/994055-overview.
        5. Rahbar R, McGill TJ, Mulliken JB. Vascular tumors and malformations of the head and neck. In: Cummings. Otolaryngology: Head & Neck Surgery, 4th ed. Philadelphia, PA: Mosby, Inc; 2005;
        6. Simpson LL. Cystic hygroma and increased nuchal translucency. UpToDate. Waltham, MA: UpToDate; May 11, 2017; https://www.uptodate.com/contents/cystic-hygroma-and-increased-nuchal-translucency.

        Rare Pulmonology News