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lymphedema-distichiasis syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A disorder characterized by primary limb lymphedema associated with distichiasis (double rows of eyelashes, with extra eyelashes growing from the Meibomian gland orifices). Swelling of the extremities, due to altered lymphatic flow, usually appears in late childhood or puberty. Most affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia. Drooping of the upper eyelid (ptosis) is a variable feature of the lymphedema-distichiasis syndrome, occurring in about 30% of patients.
Mondo Term and Equivalent IDs
MONDO:0007922:  lymphedema-distichiasis syndrome
DOID:0111509: 
GARD:0000333: 
MESH:C537710: 
NCIT:C128191: 
Orphanet:33001: 
SCTID:8634009: 
UMLS:C0265345: