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Distichiasis-lymphedema syndrome

Synonyms
Hereditary lymphedema-distichiasis syndrome (subtype); Lymphedema with distichiasis
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Lymphedema-Distichiasis Syndrome
Lymphedema-distichiasis syndrome (referred to as LDS in this GeneReview) is characterized by lower-limb lymphedema, and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). Lymphedema typically appears in late childhood or puberty, is confined to the lower limbs with or without involvement of the external genitalia, and is often asymmetric; severity varies within families. Males develop edema at an earlier age and have more problems with cellulitis than females. Distichiasis, which may be present at birth, is observed in 94% of affected individuals. About 75% of affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia; other common findings include varicose veins and ptosis.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Sahar Mansour
Glen W Brice
Steve Jeffery
view full author information

Available tests

30 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: FKHL14, LD, MFH-1, MFH1, FOXC2
    Summary: forkhead box C2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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