Lymphedema Hypoparathyroidism Syndrome

Dahlberg Syndrome

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Discussion

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

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OMIM #247410

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.

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

http://omim.org/entry/247410

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

Synonym(s)
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

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see also:

OMIM 247410

http://omim.org/entry/247410

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Hypoparathyroidism Patient/Family Resources

Related Topics:

Hypothyroidism

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001393/

Hypothyroidism - primary

http://endocrinesurgery.ucla.edu/patient_education_adm_hypothyroidism_primary.html

Hypothyroidism - secondary

http://health.nytimes.com/health/guides/disease/hypothyroidism-secondary/overview.html

hypoparathyroidism_lymphedema_syndrome.htm

=======Umbrella Organizations===========

Genetic Alliance
4301 Connecticut Avenue NW
Suite 404
Washington, DC 20008-2369
Telephone: 202-966-5557
Fax: 202-966-8553

E-mail: info@geneticalliance.org

Web site: http://www.geneticalliance.org

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
PO Box 1968
Danbury, CT 06813-1968
Toll-free: 1-800-999-6673 (voicemail only)
Telephone: 203-744-0100
TTY: 203-797-9590
Fax: 203-798-2291

Web site: http://www.rarediseases.org/

E-mail: orphan@rarediseases.org

=======Patient Matching Organizations=====

Madisons Foundation
P.O. Box 241956
Los Angeles, CA 90024
Telephone: 310-264-0826
Fax: 310-264-4766

E-mail: getinfo@madisonsfoundation.org

Web site: http://www.madisonsfoundation.org/

MUMS National Parent to Parent Network
150 Custer Court
Green Bay, WI 54301
Toll-free: 1-877-336-5333
Telephone: 920-336-5333
Fax: 920-339-0995

E-mail: mums@netnet.net

Web site: http://www.netnet.net/mums/

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Join us as we work for lymphedema patients everywhere:

Advocates for Lymphedema

Dedicated to be an advocacy group for lymphedema patients. Working towards education, legal reform, changing insurance practices, promoting research, reaching for a cure.

http://health.groups.yahoo.com/group/AdvocatesforLymphedema/

Subscribe:

AdvocatesforLymphedema-subscribe@yahoogroups.com

Pat O'Connor

Lymphedema People / Advocates for Lymphedema

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For information about Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema\

For Information about Lymphedema Complications

http://www.lymphedemapeople.com/wiki/doku.php?id=complications_of_lymphedema

For Lymphedema Personal Stories

http://www.lymphedemapeople.com/phpBB2/viewforum.php?f=3

For information about How to Treat a Lymphedema Wound

http://www.lymphedemapeople.com/wiki/doku.php?id=how_to_treat_a_lymphedema_wound

For information about Lymphedema Treatment

http://www.lymphedemapeople.com/wiki/doku.php?id=treatment

For information about Exercises for Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=exercises_for_lymphedema

For information on Infections Associated with Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=infections_associated_with_lymphedema

For information on Lymphedema in Children

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_in_children

Lymphedema Glossary

http://www.lymphedemapeople.com/wiki/doku.php?id=glossary:listing

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Lymphedema People - Support Groups

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Children with Lymphedema

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.

http://health.groups.yahoo.com/group/childrenwithlymphedema/

Subscribe: childrenwithlymphedema-subscribe@yahoogroups.com

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Lipedema Lipodema Lipoedema

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!

http://health.groups.yahoo.com/group/lipedema_lipodema_lipoedema/?yguid=209645515

Subscribe: lipedema_lipodema_lipoedema-subscribe@yahoogroups.com

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MEN WITH LYMPHEDEMA

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.

http://health.groups.yahoo.com/group/menwithlymphedema/

Subscribe: menwithlymphedema-subscribe@yahoogroups.com

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All About Lymphangiectasia

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.

http://health.groups.yahoo.com/group/allaboutlymphangiectasia/

Subscribe: allaboutlymphangiectasia-subscribe@yahoogroups.com

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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.

http://health.groups.yahoo.com/group/lymphaticdisorders/

Subscribe: lymphaticdisorders-subscribe@yahoogroups.com

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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. We are also working on hundred more. Come and take a stroll!

Lymphedema Glossary

http://www.lymphedemapeople.com/wiki/doku.php?id=glossary:listing

Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema

Arm Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=arm_lymphedema

Leg Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=leg_lymphedema

Acute Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=acute_lymphedema

The Lymphedema Diet

http://www.lymphedemapeople.com/wiki/doku.php?id=the_lymphedema_diet