Related Terms: Lymphedema Hypoparathyroidism Syndrome, Autosomal recessive, X-linked
Genetic/Inheritance: Autosomal recessive and X-linked recessive inheritance.
Synonyms: Lymphedema hypoparathyroidism syndrome, Hypoparathyroidism lymphedema syndrome, Dahlberg Borer newcomer syndrome, Dahlberg syndrome
MIM number: 247410 Orpha number: ORPHA1563
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.
Other symptoms may include: Broad nasal bridge Displacement of inner canthi Congenital lymphedema Hypoparathyroidism Short end bones of fingers Short end bones of toes Bilateral cataract Chest pleural thickening Thick skin Short stature
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.
The real tragedy is that it has been slightly over three years since we first published this page and in researching new information to include in the update, we could find none. There is no new research, treatment or further understanding in the medical world of the condition.
Dec. 28, 2011
Alternative titles; symbols HYPOPARATHYROIDISM-LYMPHEDEMA SYNDROME
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
1996-2004 John Hopkins University
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No matter how you spell it, this is another very little understood and totally frustrating conditions out there. This will be a support group for those suffering with lipedema/lipodema. A place for information, sharing experiences, exploring treatment options and coping.
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If you are a man with lymphedema; a man with a loved one with lymphedema who you are trying to help and understand come join us and discover what it is to be the master instead of the sufferer of lymphedema.
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While we have a number of support groups for lymphedema… there is nothing out there for other lymphatic disorders. Because we have one of the most comprehensive information sites on all lymphatic disorders, I thought perhaps, it is time that one be offered.
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