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
LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME
Alternative titles; symbols HYPOPARATHYROIDISM-LYMPHEDEMA SYNDROME
TEXT
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
REFERENCES
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
CREATION DATE
Victor A. McKusick : 6/3/1986
EDIT HISTORY
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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For information about Lymphedema
For Information about Lymphedema Complications
For Lymphedema Personal Stories
For information about How to Treat a Lymphedema Wound
For information about Lymphedema Treatment
For information about Exercises for Lymphedema
For information on Lymphedema in Children
Join us as we work for lymphedema patients everywhere:
Dedicated to be an advocacy group for lymphedema patients. Working towards education, legal reform, changing insurance practices, promoting research, reaching for a cure.
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Pat O'Connor
The time has come for families, parents, caregivers to have a support group of their own. Support group for parents, families and caregivers of chilren with lymphedema. Sharing information on coping, diagnosis, treatment and prognosis. Sponsored by Lymphedema People.
Subscribe: childrenwithlymphedema-subscribe@yahoogroups.com
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.
Come join, be a part of the family!
Subscribe: lipedema_lipodema_lipoedema-subscribe@yahoogroups.com
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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Support group for parents, patients, children who suffer from all forms of lymphangiectasia. This condition is caused by dilation of the lymphatics. It can affect the intestinal tract, lungs and other critical body areas.
Subscribe: allaboutlymphangiectasia-subscribe@yahoogroups.com
Lymphatic Disorders Support Group @ Yahoo Groups
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.
DISCRIPTION
Information and support for rare and unusual disorders affecting the lymph system. Includes lymphangiomas, lymphatic malformations, telangiectasia, hennekam's syndrome, distichiasis, Figueroa syndrome, ptosis syndrome, plus many more. Extensive database of information available through sister site Lymphedema People.
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Lymphedema People New Wiki Pages
Have you seen our new “Wiki” pages yet? Listed below are just a sample of the more than 140 pages now listed in our Wiki section. Come and take a stroll!
Diuretics are not for Lymphedema
Lymphedema People Online Support Groups
Lymphedema and Pain Management
Manual Lymphatic Drainage (MLD) and Complex Decongestive Therapy (CDT)
Infections Associated with Lymphedema
How to Treat a Lymphedema Wound
Fungal Infections Associated with Lymphedema
Extraperitoneal para-aortic lymph node dissection (EPLND)