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Emberger Syndrome

Emberger Syndrome

OMIM number: 614038

Comments closing date: 24/01/2019

Emberger Syndrome is a condition that causes primary lymphoedema (of the lower extremities and external genitalia) with myelodysplasia. It is caused by heterozygous mutations in the GATA2 gene. Other associated features of this condition are deafness, which can be congenital and profound. Facial dysmorphism (neck webbing, hypotelorism and epicanthic folds) and recurrent cellulitis of the affected limb(s). Cutaneous warts have also been described in several patients.

Review date: 27 December 2020