Rare Infectious Disease News

Disease Profile

Lymphedema-distichiasis syndrome

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

Age of onset

All ages

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ICD-10

Q82.0

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.

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)

Lymphedema with distichiasis; Hereditary lymphedema-distichiasis syndrome (subtype)

Categories

Blood Diseases; Congenital and Genetic Diseases; Eye diseases;

Summary

Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this syndrome have extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs, most often the legs and feet. The abnormal eyelashes, which grow along the inner lining of the eyelid, often touch the eyeball and can cause damage to the clear covering of the eye (cornea). Other eye problems such as an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea may also occur. Other health problems that may occur in lymphedema-distichiasis syndrome include varicose veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (cleft palate).[1][2][3] 

Lymphedema-distichiasis syndrome is caused by changes (referred to as mutations or pathogenic variants) in the FOXC2 gene. It is inherited in an autosomal dominant pattern.[1][2] Diagnosis of this syndrome is based on a thorough clinical examination, detailed patient history, and identification of the symptoms mentioned above. Clinical genetic testing can be used to confirm the diagnosis. Treatment is directed at the specific symptoms present in each case. This may include complete decongestive therapy, a comprehensive management technique used to treat lympedema and/or lubrication and removal of the extra eyelashes via plucking, cryotherapy, or electrolysis.[2][3]

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
Conjunctivitis
Pink eye
0000509
Corneal erosion
Damage to outer layer of the cornea of the eye
0200020
Distichiasis
0009743
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

0000613
Predominantly lower limb lymphedema
0003550
30%-79% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Ectropion
Eyelid turned out
0000656
Muscle weakness
Muscular weakness
0001324
Ptosis
Drooping upper eyelid
0000508
Varicose veins
0002619
5%-29% of people have these symptoms
Abnormality of the pulmonary vasculature
Abnormality of the lung blood vessels
0004930
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat

[ more ]

0011675
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Diabetes mellitus
0000819
Fibrosarcoma
0100244
Glomerulopathy
0100820
Patent ductus arteriosus
0001643
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Recurrent skin infections
Skin infections, recurrent
0001581
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent

[ more ]

0000010
Renal duplication
Extra kidney
0000075
Spinalarachnoid cyst
0009745
Tubulointerstitial nephritis
0001970
Webbed neck
Neck webbing
0000465
1%-4% of people have these symptoms
Yellow nails
0011367
Percent of people who have these symptoms is not available through HPO
Abnormality of the musculature
Muscular abnormality
0003011
Autosomal dominant inheritance
0000006
Cellulitis
Bacterial infection of skin
Skin infection

[ more ]

0100658
Corneal ulceration
0012804
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Recurrent corneal erosions
Recurrent breakdown of clear protective layer of eye
0000495
Tetralogy of Fallot
0001636
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    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

      • MedlinePlus Genetics contains information on Lymphedema-distichiasis syndrome. This website is maintained by the National Library of Medicine.
      • 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

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • 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 Lymphedema-distichiasis syndrome. Click on the link to view a sample search on this topic.

          References

          1. Lymphedema-distichiasis syndrome. Genetics Home Reference (GHR). February 2014; https://ghr.nlm.nih.gov/condition/lymphedema-distichiasis-syndrome.
          2. Stevenson DA. Lymphedema-Distichiasis Syndrome. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/lymphedema-distichiasis-syndrome/.
          3. Mansour S, Brice GW, Jeffery S, Mortimer P. Lymphedema-Distichiasis Syndrome. GeneReviews. May 2012; https://www.ncbi.nlm.nih.gov/books/NBK1457/.