Lymphedema-Distichiasis Syndrome

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OMIM 57 153400 MedGen 42 C0265345 C2675066 MeSH 44 D008209

SNOMED-CT via HPO 69 263681008 197927001 30275001 29738008 63567004 87979003 80281008 11731003 2055003 91514001 11934000 9826008 128306009 193570009 247053007 246622003 409668002 127559009 62909004 73211009 234097001 30213001 26544005 253549006 30288003 86299006 83330001 28689008 428255004 128060009 12856003 399989005 95339000 102594003 44808001 698247007 443250000 53654007 197679002 50792001 more UMLS 73 C0265345

NIH Rare Diseases : ⁵³ 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 mutations 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. Treatment is directed at the specific symptoms present in each case. This may include complete decongestive therapy, a comprehensive management technique used to treat lympedema and/or lubrication and removal of the extra eyelashes via plucking, cryotherapy, or electrolysis.

MalaCards based summary : Lymphedema-Distichiasis Syndrome, also known as lymphedema with distichiasis, is related to distichiasis and hereditary lymphedema, and has symptoms including photophobia An important gene associated with Lymphedema-Distichiasis Syndrome is FOXC2 (Forkhead Box C2). Affiliated tissues include eye, heart and testes, and related phenotypes are cleft palate and cleft upper lip

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)

UniProtKB/Swiss-Prot : ⁷⁵ Lymphedema-distichiasis: 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.

Genetics Home Reference : ²⁵ 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).

Wikipedia : ⁷⁶ Lymphedema–distichiasis syndrome is a medical condition associated with the FOXC2... more...

GeneReviews: NBK1457

Clinical features from OMIM:

153400

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	9.28	FOXP2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	9.28	FOXL1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	9.28	FOXL1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-176	9.28	FOXL1 FOXP2
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.28	FOXP2
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	9.28	FOXL1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-76	9.28	FOXP2
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-88	9.28	FOXL1

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

Search GEO for disease gene expression data for Lymphedema-Distichiasis Syndrome.