Lymphedema-distichiasis syndrome

Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.



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Narrow down the case reports



Total: 14 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(65.0%)		 20186799
 c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient.
Tanpaiboon P, Kantaputra P, Wejathikul K, Piyamongkol W.
Am J Med Genet A. 2010;152A(3):737-40.
Glossoptosis Micrognathia Distichiasis
FOXC2
c|INS|595_596|C
Blepharoptosis Child DNA Mutational Analysis Forkhead Transcription Factors Genes, Dominant Homo sapiens Lymphedema Male Mutagenesis, Insertional Pierre Robin Syndrome Syndrome Thailand
2
(60.5%)		 27752211
 Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema-Distichiasis Syndrome.
Papoff P, Castori M, Manganaro L, Midulla F, Moretti C, Cascone P.
J Maxillofac Oral Surg. 2016;15(3):384-389.
Glossoptosis Micrognathia
FOXC2
3
(43.1%)		 20450314
 A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.
Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P.
Ophthalmic Genet. 2010;31(2):98-100.
Scoliosis Distichiasis
FOXC2
Eye Abnormalities Face Forkhead Transcription Factors Homo sapiens Lymphedema Male Syndrome
3
(43.1%)		 20218083
 Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2.
Witte MH, Erickson RP, Khalil M, Dellinger M, Bernas M, Grogan T, Nitta H, Feng J, Duggan D, Witte CL.
Lymphology. 2009;42(4):152-60.
Scoliosis Distichiasis
FOXC2
5' Untranslated Regions Adult Chromosomes, Human, Pair 16 Females Forkhead Transcription Factors Gene Duplication Homo sapiens Lymphedema Mutation Oligonucleotide Array Sequence Analysis Phenotype Single Nucleotide Polymorphism Syndrome
5
(30.8%)		 29406328
 Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome.
De Niear MA, Breazzano MP, Mawn LA.
Ophthalmic Plast Reconstr Surg. 2018;34(3):e88-e90.
Distichiasis
FOXC2
c|INS|741_742|GG
Child, Preschool Forkhead Transcription Factors Homo sapiens Lymphedema Male Mutation
5
(30.8%)		 29342028
 Lymphedema-Distichiasis Syndrome in a Male Patient Followed for 16 Years.
Grisolia ABD, Nelson CC.
Ophthalmic Plast Reconstr Surg. 2018;34(2):e63-e65.
Varicose veins Distichiasis
Eyelid Diseases Homo sapiens Lymphedema Male Young Adult
5
(30.8%)		 20848994
 Different lymphscintigraphic patterns in patients with lymphedema distichiasis.
Sutkowska E, Bator A, Trompeta K, Szuba A.
Lymphology. 2010;43(2):73-7.
Distichiasis
Adult Child, Preschool Females Homo sapiens Lymphatic Abnormalities Lymphedema Male Middle Aged Radiopharmaceuticals Syndrome
5
(30.8%)		 19013876
 Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review.
Dellinger MT, Thome K, Bernas MJ, Erickson RP, Witte MH.
Lymphology. 2008;41(3):98-102.
Distichiasis
FOXC2
Adult Amino Acid Sequence Females Forkhead Transcription Factors Homo sapiens Lymphedema Missense Mutation Molecular Sequence Data Syndrome
5
(30.8%)		 18986489
 Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.
Vreeburg M, Heitink MV, Damstra RJ, Moog U, van Geel M, van Steensel MA.
Int J Dermatol. 2008;47 Suppl 1:52-5.
Ptosis Distichiasis
FOXC2
Adult Females Forkhead Transcription Factors Homo sapiens Leg Lymphedema Male Syndrome
5
(30.8%)		 17366583
 Spinal extradural arachnoid cysts associated with distichiasis and lymphedema.
Yabuki S, Kikuchi S, Ikegawa S.
Am J Med Genet A. 2007;143A(8):884-7.
Distichiasis
FOXC2
Arachnoid Cysts Child Eye Abnormalities Eyelid Diseases Females Homo sapiens Lymphedema Magnetic Resonance Imaging Spinal Cord Diseases
        

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0000509 Conjunctivitis Very frequent (99-80%)
HP:0000613 Photophobia Very frequent (99-80%)
HP:0003550 Predominantly lower limb lymphedema Very frequent (99-80%)
HP:0009743 Distichiasis Very frequent (99-80%)
HP:0200020 Corneal erosion Very frequent (99-80%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000656 Ectropion Frequent (79-30%)
HP:0001324 Muscle weakness Frequent (79-30%)
HP:0002619 Varicose veins Frequent (79-30%)
HP:0000010 Recurrent urinary tract infections Occasional (29-5%)
HP:0000075 Renal duplication Occasional (29-5%)
HP:0000093 Proteinuria Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000204 Cleft upper lip Occasional (29-5%)
HP:0000465 Webbed neck Occasional (29-5%)
HP:0000819 Diabetes mellitus Occasional (29-5%)
HP:0001581 Recurrent skin infections Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001970 Tubulointerstitial nephritis Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0004930 Abnormality of the pulmonary vasculature Occasional (29-5%)
HP:0009745 Spinalarachnoid cyst Occasional (29-5%)
HP:0011675 Arrhythmia Occasional (29-5%)
HP:0100244 Fibrosarcoma Occasional (29-5%)
HP:0100820 Glomerulopathy Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0009743 Distichiasis 4
HP:0000112 Nephropathy 1
HP:0000162 Glossoptosis 1
HP:0000347 Micrognathia 1
HP:0002652 Skeletal dysplasia 1
HP:0010310 Chylothorax 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
FOXC2 forkhead box C2 2303