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Dahlberg-Borer-Newcomer syndrome

Synonym(s) Dahlberg syndrome
Lymphedema-hypoparathyroidism syndrome syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
or X-linked recessive
Age of onset Childhood
  • Q87.8
  • C1855477
  • C535769
MedDRA -


Disease definition

Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.

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