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Lymphedema distichiasis syndrome

Known as: Hereditary lymphedema-distichiasis syndrome, Lymphedema with distichiasis, Lymphedema-Distichiasis Syndrome 
An autosomal dominant genetic disorder caused by mutation(s) in the FOXC2 gene, encoding forkhead box protein C2. The condition is characterized by… 
National Institutes of Health

Related topics

Related topics

15 relations
Autosomal dominant inheritanceBlepharoptosisConjunctivitisCorneal Ulcer

Broader (2)

EyelashLymphedema

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Lymphedema-distichiasis syndrome
Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of… 
2018
2018
Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome.
A 4 year-old-boy was referred for distichiasis of the upper and lower lids of both eyes that had been present since at least 1… 
2017
2017
Renal anomalies and lymphedema distichiasis syndrome. A rare association?
Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema… 
2010
2010
A Case of Lymphedema-Distichiasis Syndrome Carrying a New de novo Frameshift FOXC2 Mutation
Purpose: Lymphedema-Distichiasis (LD, OMIM 153400) is an autosomal dominant disorder with variable expression. The mutated gene… 
2010
2010
Different lymphscintigraphic patterns in patients with lymphedema distichiasis.
Mutation of the transcription factor FOXC2 gene has been identified as the cause of lymphedema-distichiasis syndrome (LD… 
2007
2007
Spinal extradural arachnoid cysts associated with distichiasis and lymphedema
Spinal extradural arachnoid cysts (SEDAC) are lesions communicating to the subarachnoid space of the spinal canal via a dural… 
2007
2007
Perinatal diagnosis of a lymphedema‐distichiasis syndrome (LD)
We present the case of a 27-year-old IIg, Ip, who was transferred to our perinatal centre at 33 + 0 weeks of gestation with… 
Review
2005
Review
2005
Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs
Background: The FOXC2 gene on 16q24 is mutated in lymphoedema distichiasis (LD), in which varicose veins (VV) are a common… 
2004
2004
Distichiasis and dysplastic eyelashes in trachomatous trichiasis cases in Oman: a case series.
The study was a prospective evaluation of the prevalence of distichiasis and/or dysplastic eyelashes among trachomatous… 
1991
1991
Hereditary lymphedema and distichiasis.
Two patients with lymphedema-distichiasis syndrome illustrate that both Milroy's disease and late-onset hereditary lymphedema are… 
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