Dahlberg-Borer-Newcomer syndrome

Dahlberg-Borer-Newcomer syndrome is a very rare disorder that affects several parts of the body. People with this condition have been reported to experience abnormalities in their parathyroid glands, kidney function, lymphatic system (with swelling present at birth), heart valve function (mitral valve prolapse), and finger bone development (brachytelephalangy). Other features noted include mild differences in facial appearance, extra hair (hypertrichosis), and nail changes. This syndrome is categorized as an ectodermal dysplasia, meaning it involves tissues like skin, nails, and hair. It was first described in two adult brothers, highlighting its rarity. The available information comes from key studies that have documented these various features, although the full range of effects and the natural history of the condition are not yet completely defined.

Common signs of this syndrome include low parathyroid hormone levels (hypoparathyroidism), kidney issues (nephropathy), and congenital lymphedema (swelling present from birth). Additionally, people with this condition may experience a heart valve abnormality called mitral valve prolapse, changes in their fingers (brachytelephalangy), slight differences in facial features, extra hair growth, and nail abnormalities.

The exact cause of Dahlberg-Borer-Newcomer syndrome is not well understood. It belongs to a group of disorders known as ectodermal dysplasias. No specific gene or inheritance pattern has been clearly linked to the syndrome based on the current available information.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.