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Lymphedema Hypoparathyroidism Syndrome

Dahlberg Syndrome



A very rare form of lymphedema. 

Genetic/Inheritance: Autosomal recessive and X-linked recessive inheritance

Synonyms: Lymphedema hypoparathyroidism syndrome, Hypoparathyroidism lymphedema syndrome, Dahlberg borer newcomer syndrome, Dahlberg syndrome

Symptoms: hypoparathyroidism (A condition where the parathyroid glands don't produce enough parathyroid hormone for normal body functioning. The primary function of these hormones is to regulate body calcium levels.), nephropathy (kidney disease), congenital lymphedema, mitral valve prolapse (when the valve between your heart's left upper chamber (left atrium) and the left lower chamber (left ventricle) doesn't close properly. When the left ventricle contracts, the valve's leaflets bulge (prolapse) upward or back into the atrium.) and short end bones in fingers and toes.

Treatment: Treatment focuses on the symptoms/complications.  This would include manual lymphatic drainage for the lymphedema. Treatment of hypothydroidism may include oral calcium carbonate tablets, Vitamin D, a diet ridh in calcium and low in phosphorus items.  Treatment for the mitral valve prolaspse might include beta blockers, aspirin, prescription anticoagulants and surgery for the most severe cases.

Pat O'Connor

May 29, 2008 


OMIM #247410


Alternative titles; symbols



Dahlberg et al. (1983) described 2 adult brothers with congenital lymphedema, hypoparathyroidism, nephropathy, mitral valve prolapse and brachytelephalangy. The older sib was found to have bilateral cataracts on routine examination at age 19 years. Swelling of his arms and legs, noted soon after his birth, increased after he began walking. Progressive renal failure necessitated renal transplantation at age 26 years. The brother had similar findings. Both have a broad nasal bridge and lateral displacement of the inner canthi. Pulmonary lymphangiectasia (see 265300) was suspected on the basis of radiologic findings. The mode of inheritance is not clear but includes autosomal recessive and X-linked recessive inheritance. 30 MEDLINE Neighbors


1. Dahlberg, P. J.; Borer, W. Z.; Newcomer, K. L.; Yutuc, W. R. :
Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy. Am. J. Med. Genet. 16: 99-104, 1983.
PubMed ID : 6638075


Victor A. McKusick : 6/3/1986


mimadm : 2/19/1994
supermim : 3/17/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/3/1986

Copyright © 1966-2004 Johns Hopkins University


D I S E A S E : Dahlberg borer newcomer syndrome

Lymphedema hypoparathyroidism syndrome

Clinical Signs

 abnormal respiratory system (Very frequent sign)
   absent/small fingernails (Very frequent sign)
   autosomal recessive inheritance (Very frequent sign)
   brachydactyly (Very frequent sign)
   broad nose (Very frequent sign)
   cataract (Very frequent sign)
   decreased sweating (Very frequent sign)
   hypocalcemia (Very frequent sign)
   hypothyroidy (Very frequent sign)
   increased body hair (Very frequent sign)
   long qt/preexcitation/abnormal ecg (Very frequent sign)
   lymphoedema/oedema (Very frequent sign)
   mitral valve prolapse/incompetence (Very frequent sign)
   ptosis (Very frequent sign)
   renal disease (Very frequent sign)
   renal failure (Very frequent sign)
   short foot/brachydactyly of toes (Very frequent sign)
   short stature/dwarfism (Very frequent sign)
   synophris (Very frequent sign)
   telecanthus (Very frequent sign)
   thick skin (Very frequent sign)

Office of Rare Diseases


Hypoparathyroidism Patient/Family Resources

Related Topics:


           Hypothyroidism - primary


           Hypothyroidism - secondary



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