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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 14 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
5
(30.8%)		 2064580
 Hereditary lymphedema and distichiasis.
Kolin T, Johns KJ, Wadlington WB, Butler MG, Sunalp MA, Wright KW.
Arch Ophthalmol. 1991;109(7):980-1.
Distichiasis
Conjunctival Diseases Corneal Diseases Females Homo sapiens Lymphedema Male Pigmentation Disorders Syndrome
12
(21.2%)		 21481749
 Ectodermal, skeletal, and genitourinary abnormalities with neonatal hyperekplexia.
McAbee GN, Santilli AM, Stone J, Schnur RE.
Pediatr Neurol. 2011;44(5):381-4.
Skeletal dysplasia
Bone and Bones Brain Ectoderm Homo sapiens Infant Male Movement Disorders Reflex, Startle Skeleton Urogenital Abnormalities X-Ray Computed Tomography
13
(4.0%)		 20124880
 Rare association of immunoglobulin A nephropathy and lymphedema-distichiasis syndrome.
Haran M, Lodha A, Rose M, Greenberg S.
Am J Med Sci. 2010;339(3):288-9.
Nephropathy
Eye Abnormalities Females Homo sapiens IGA Glomerulonephritis Lymphedema Middle Aged Rare Diseases Syndrome
13
(4.0%)		 16419129
 Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia.
Stevenson DA, Pysher TJ, Ward RM, Carey JC.
Am J Med Genet A. 2006;140(4):368-72.
Edema
Chylothorax Edema Fatal Outcome Females Genes, Recessive Gestational Age Homo sapiens Infant, Newborn Lymphangiectasis Lymphedema Male Pregnancy
        

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