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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.
ORPHA:33001Classification level: Disorder
Prevalence is unknown.
Lymphoedema - distichiasis is characterised by primary limb lymphoedema usually starting at puberty (but in some cases later or at birth) and associated with distichiasis (double rows of eyelashes, with extra eyelashes growing from the Meibomian gland orifices). Lymphoedema starts earlier in males. Other associated manifestations can include: heart abnormalities, cleft palate, varicose veins and extradural cysts. Photophobia, ptosis, congenital ectropion and congenital cataracts can be present. Distichiasis can be asymptomatic, but it can also lead to corneal abrasion or ulceration.
The causative gene is FOXC2 (previously referred to as MFH1, in 16q24.3), coding for transcription factor FOXC2.
This syndrome is transmitted following an autosomal dominant pattern, with variable penetrance.
Management and treatment
In most cases, distichiasis does not require any particular treatment. Management first includes a treatment phase (2 to 3 weeks) with daily multi-layer minimally elastic bandages, potentially combined with manual lymphatic drainage, in order to reduce the size of the oedema. This phase is followed by a maintenance phase, during which elastic compression garments (socks, stockings) need to be worn during the day-time to maintain reduced volume. Night-time bandages may continue to be worn during this phase, though less frequently than during the reduction stage. Skin care is necessary to prevent infections.
- Clinical genetics review
- English (2019)