Lymphedema-distichiasis syndrome

McDermott, Sean; Lahiff, Conor

doi:10.1503/cmaj.141029

Cited by 4 publications

(1 citation statement)

References 5 publications

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“…LDS is a distinct syndrome characterized by unique combination of lymphedema and distichiasis (McDermott & Lahiff, 2016). The lymphedema is confined to the lower limbs and appears in puberty or later on.…”

Section: Discussionmentioning

confidence: 99%

Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder

Michelson

Lidzbarsky

Nishri

et al. 2022

American J of Med Genetics Pt A

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Interstitial deletions of 16q24.1–q24.2 are associated with alveolar capillary dysplasia, congenital renal malformations, neurodevelopmental disorders, and congenital abnormalities. Lymphedema–Distichiasis syndrome (LDS; OMIM # 153400) is a dominant condition caused by heterozygous pathogenic variants in FOXC2. Usually, lymphedema and distichiasis occur in puberty or later on, and affected individuals typically achieve normal developmental milestones. Here, we describe a boy with congenital lymphedema, distichiasis, bilateral hydronephrosis, and global developmental delay, with a de novo microdeletion of 894 kb at 16q24.1–q24.2. This report extends the phenotype of both 16q24.1–q24.2 microdeletion syndrome and of LDS. Interestingly, the deletion involves only the 3′‐UTR part of FOXC2.

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Section: Discussionmentioning

confidence: 99%