Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: FOXC2

Green List (high evidence)

Lymphoedema-distichiasis is an autosomal dominant disorder that classically presents as lymphoedema 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.

Well established gene-disease association, multiple families reported.

Created: 4 Jan 2022, 12:53 a.m. | Last Modified: 4 Jan 2022, 12:53 a.m.

Panel Version: 0.10449

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphoedema-distichiasis syndrome, MIM# 153400

Publications

• 11078474
• 11694548
• 11371511

Red List (low evidence)

1 German-Irish family in which 6 affected members spanning 3 generations had lymphedema-distichiasis syndrome, and a 1-bp insertion in the FOXC2 gene. Four of the affected members also had renal disease, and 3 had type II diabetes mellitus, features not usually seen in lymphedema-distichiasis syndrome. The oldest affected member of the family was 73 years old at the time of report and was on chronic renal dialysis. One of her sons, aged 45 years, had developed proteinuria at age 32 years. Renal biopsy showed chronic sclerosing glomerulopathy and chronic tubulointerstitial nephritis. One member of the family underwent renal transplantation and, shortly thereafter, pancreatic transplantation, both with excellent results. She was 36 years old at the time of report and had distichiasis but no lymphedema.

Created: 16 Jan 2020, 3:59 a.m. | Last Modified: 16 Jan 2020, 3:59 a.m.

Panel Version: 0.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400

Publications

• PMID: 15523639