Lymphedema-Distichiasis Syndrome (LPHDST)

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MedlinePlus Genetics: ⁴² Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body. People with lymphedema-distichiasis syndrome develop puffiness or swelling (lymphedema) of the limbs, typically the legs and feet. Another characteristic of this syndrome is the growth of extra eyelashes (distichiasis), ranging from a few extra eyelashes to a full extra set on both the upper and lower lids. These eyelashes do not grow along the edge of the eyelid, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Related eye problems can include an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea. Other health problems associated with this disorder include swollen and knotted (varicose) veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (a cleft palate).All people with lymphedema-distichiasis syndrome have extra eyelashes present at birth. The age of onset of lymphedema varies, but it most often begins during puberty. Males usually develop lymphedema earlier than females, but all affected individuals will develop lymphedema by the time they are in their forties.

MalaCards based summary: Lymphedema-Distichiasis Syndrome, also known as lymphedema with distichiasis, is related to distichiasis and lymphatic malformation 1, and has symptoms including photophobia An important gene associated with Lymphedema-Distichiasis Syndrome is FOXC2 (Forkhead Box C2), and among its related pathways/superpathways are Tyrosine Kinases / Adaptors and Angiogenesis (CST). Affiliated tissues include eye, skin and heart, and related phenotypes are photophobia and conjunctivitis

GARD: ¹⁹ Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this syndrome have extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs, most often the legs and feet. The abnormal eyelashes, which grow along the inner lining of the eyelid, often touch the eyeball and can cause damage to the clear covering of the eye (cornea). Other eye problems such as an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea may also occur. Other health problems that may occur in Lymphedema-distichiasis syndrome include varicose veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (cleft palate). Lymphedema-distichiasis syndrome is caused by changes (referred to as genetic changes or pathogenic variants) in the FOXC2 gene. It is inherited in an autosomal dominant pattern. Diagnosis of this syndrome is based on a thorough clinical examination, detailed patient history, and identification of the symptoms mentioned above. Clinical genetic testing can be used to confirm the diagnosis.

UniProtKB/Swiss-Prot: ⁷³ An autosomal dominant 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.

OMIM®: ⁵⁷ Lymphedema-distichiasis is an autosomal dominant disorder that classically presents as lymphedema of the limbs and double rows of eyelashes (distichiasis). Irritation of the cornea, with corneal ulceration in some cases, brings the patients to the attention of ophthalmologists. Other complications may include cardiac defects, varicose veins, ptosis, cleft palate, spinal extradural cysts, and photophobia (Fang et al., 2000; Brice et al., 2002). (153400) (Updated 08-Dec-2022)

Orphanet: ⁵⁸ 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.

Disease Ontology: ¹¹ A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has material basis in heterozygous mutation in FOXC2 on chromosome 16q24.1.

Wikipedia: ⁷⁵ Lymphedema-distichiasis syndrome is a medical condition associated with the FOXC2 gene.: 849 People with... more...

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Lymphedema-Distichiasis Syndrome