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Rare polymalformative syndrome with lymphedema, endocrine disorders, and progressive renal failure.

Dahlberg Borer Newcomer Syndrome.

Either autosomal recessive or X-linked recessive.

Not known. Some similarities to Noonan syndrome.

Evidence of lymphedema occurring shortly after birth, together with clinical and laboratory evidence of hypoparathyroidism. Clinical, radiologic, and/or histologic evidence of nephropathy and pulmonary lymphangiectasia.

Congenital lymphedema, hypoparathyroidism, nephropathy, progressive renal failure, mitral valve prolapse, brachytelephalangy, cataracts, broad nasal bridge, telecanthus.

Echocardiography to assess cardiac function. Check electrolytes and renal function. It is very important to measure calcium level.

As determined by cardiac and parathyroid functions.

No specific pharmacological implications except for patients with renal impairment.

Nonne-Milroy Syndrome: Hereditary onset type I (onset before age 35 years), congenital lymphedema, noninfectious hereditary elephantiasis. Severe swelling of the soft tissue secondary to obstruction of lymphatic drainage. Extravasation of significant amount of protein to the interstitial space, leading to stimulation of fibroblasts and development of “woody feeling”; nonpitting edema of the affected extremities.

Meige Syndrome: Same as Nonne-Milroy syndrome but considered the hereditary onset type II with onset after age 35 years.

Pulmonary Cystic Lymphangiectasis (Pulmonary Lymphangiomatosis): Characterized by a congenital pulmonary lymphangiectasis with bilateral pneumothorax. It is often complicated by chylous pleural effusions, which is associated pulmonary hypoplasia. The basic defect is not an intrinsic lung abnormality but a developmental error of the lymphatic system resulting in a pulmonary lymphatic obstruction sequence.

Dahlberg PJ, Borer WZ, Newcomer KL, et al: Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve and brachytelephalangy. Am J Med Genet 16:99, 1983.  [PubMed: 6638075]

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