National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cystic hygroma


Other Names:
Macrocystic lymphatic malformation; Cystic lymphangioma
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Subtypes:
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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]
Last updated: 8/15/2017
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] 
Last updated: 8/15/2017

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.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Fetal cystic hygroma 0010878
Hydrops fetalis 0001789
Stillbirth
Stillborn
0003826
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Last updated: 7/1/2020
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] 
Last updated: 8/15/2017
The long-term outlook (prognosis) associated with a cystic hygroma may depend on when the cystic hygroma is detected, the size and location of the lesion, whether complications arise, and whether an underlying syndrome or chromosome abnormality is present. If surgery to remove the lesion is successful and all affected tissue is removed, the prognosis reportedly is good.[1] If residual tissue is left behind, the recurrence rate is approximately 15%.[4]

Cystic hygromas detected prenatally on ultrasound are associated with an increased risk for chromosome abnormalities (particularly Down syndrome) and birth defects (particularly heart defects). Both of these increase the risk for miscarriage, hydrops, fetal demise, and neonatal death. Increasing size is associated with an increasing risk of an underlying abnormality.[6]

As a person with a cystic hygroma ages, morbidity is often related to cosmetic disfigurement and how the cystic hygroma affects other critical structures, such as nerves, blood vessels, lymphatics, and the airway.[4] Quality of life can be significantly impaired in many cases. Recurrent inflammation can lead to cellulitis, which can cause pain and disfigurement of the affected area. Bleeding in the lesion can cause rapid pain, hardening, and swelling or enlargement of the affected area.[2] Complications from surgery may also occur, and depending on the location may include damage to neurovascular structures (including cranial nerves), chylous fistula or chylothorax (leakage of lymphatic fluid), or hemorrhage.[4] Specific possible complications, and areas of the head or body affected, will vary from person to person.

Some studies have reported an associated mortality rate of up to 2-6%, usually due to pneumonia, bronchiectasis, or airway compromise.[4]
Last updated: 8/15/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Cystic hygroma. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I'm a young adult and I have a cystic hygroma. I want to know how rare it is. I would also like to learn more about its treatment. See answer


  1. Cystic hygroma. MedlinePlus. August 5, 2015; http://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; http://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.