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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.
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… 
2018
2018
Prenatal thoraco-amniotic chest drain insertion to manage a case of fetal hydrops secondary to FOXC2
Lymphoedema-distichiasis is an inherited autosomal dominant disorder of the lymphatic system. Rarely, it is associated with fetal… 
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… 
2016
2016
Rare Variants in LAMA5 Gene associated with FLT4 and FOXC2 Mutations in Primary Lymphedema May Contribute to Severity.
Mutations in the Fms-related tyrosine kinase 4 (FLT4) and forkhead box protein C2 (FOXC2) genes cause Milroy disease (MD) and… 
2013
2013
A novel complex insertion-deletion mutation in the FOXC2 gene in a Japanese patient with lymphedema-distichiasis syndrome.
ejd.2013.2022 Auteur(s) : Munenari Itoh seafowl@jikei.ac.jp, Hidemi Nakagawa Department of Dermatology The Jikei University… 
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… 
2010
2010
Rare association of immunoglobulin A nephropathy and lymphedema-distichiasis syndrome.
Immunoglobulin A nephropathy is the most common primary glomerulonephritis worldwide. The pathogenesis is still unknown and newer… 
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… 
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… 
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