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Genetic and Rare Diseases Information Center (GARD)

Cystic hygroma

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Cystic hygroma (meaning “moist tumor”) are fluid-filled sacs that result from a blockage in the lymphatic system, often in the head and neck area.[1][2] A cystic hygroma may be discovered in a fetus during a pregnancy ultrasound, present as a birth defect (congenital) in a newborn, or it may not become evident until later in life.[1][3] The causes include environmental factors, genetic factors, or unknown factors. The majority of prenatally diagnosed cystic hygromas are due to a chromosomal abnormality known as Turner syndrome, in which a female has only one X chromosome instead of two. When a cystic hygroma is identified in a fetus, parents are counseled regarding their baby's risk for having a chromosome problem or other birth defect, and are offered additional testing options such as special ultrasound tests or amniocentesis.[1] Cystic hygromas can occur as an isolated finding or with other birth defect as part of a syndrome. Isolated cystic hygroma may be inherited as an autosomal recessive disorder.[4] A fetal cystic hygroma may progress to hydrops (an excess amount of fluid in the body) and eventually to fetal death. Cystic hygromas in infants, children, or adults may enlarge or become infected, and may require surgery or other therapy to remove or shrink the mass.[3][5] Fetal cystic hygroma may be treated with serial thoracocentesis plus paracentesis.[6]
Last updated: 2/26/2016


  1. Cystic hygroma. MedlinePlus. February, 2016;
  2. Sabi D. Cystic Hygroma Imaging. Medscape Reference. September 10, 2015;
  3. Warner BW. Pediatric surgery. In: Townsend CM, Beauchamp RD, Foshee JC, Evers BM, Mattox KL. Sabiston Textbook of Surgery, 18th ed. Philadelphia PA: Saunders; 2007;
  4. Cystic Hygroma. Emory University School of Medicine. 2008;
  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. Chen M, Chen CP, Shih JC, Chou HC, Yu CL, Wang BT & Hsieh CY. Antenatal treatment of chylothorax and cystic hygroma with OK-432 in nonimmune hydrops fetalis. Fetal Diagn Ther. July-August, 2005; 20(4):309-15.
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Basic Information

  • 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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    Cystic Hygroma
    Cystic Hygroma Imaging
  • 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.
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