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Dahlberg Syndrome

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

Dahlberg 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

Hypoparathyroidism Patient/Family Resources

Support Groups/Umbrella Organizations

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


Web site: Genetic Alliance

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: RareDiseases is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story.

The National Organization of Rare Disorders (NORD) has partnered with to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.

RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.

Ectodermal Dysplasia Society

Ectodermal Dysplasias International Registry

Ectodermal Dysplasia

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

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


Web site: MUMS

Lymphedema People Information Pages

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

Lymphedema Glossary

Lymphedema People - Support Groups

Advocates for Lymphedema

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.


Pat O'Connor

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.


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!


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.


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.


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.


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.


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!

Lymphedema Glossary


Arm Lymphedema

Leg Lymphedema

Acute Lymphedema

The Lymphedema Diet

Exercises for Lymphedema

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

Lymphedema in Children


Magnetic Resonance Imaging

Extraperitoneal para-aortic lymph node dissection (EPLND)

Axillary node biopsy

Sentinel Node Biopsy

Small Needle Biopsy - Fine Needle Aspiration

Magnetic Resonance Imaging

Lymphedema Gene FOXC2

Lymphedema Gene VEGFC

Lymphedema Gene SOX18

Lymphedema and Pregnancy

Lymphedema People Resources

dahlberg_syndrome.txt · Last modified: 2012/10/16 14:40 (external edit)