Rare polymalformative syndrome with lymphedema,
endocrine disorders, and progressive renal failure.
Dahlberg Borer Newcomer Syndrome.
Either autosomal recessive or X-linked
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
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
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