Lymphedema Hypoparathyroidism Syndrome
Dahlberg Syndrome
----------------------------------
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.
May 29, 2008
----------------------------------
OMIM #247410
LYMPHEDEMA-HYPOPARATHYROIDISM 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.
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
Copyright © 1966-2004 Johns Hopkins University
http://omim.org/entry/247410................................
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)
===========================
see also:
OMIM 247410
==========================
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
=======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/
======================================
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
===========================
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
===========================
Lymphedema People - Support Groups
-----------------------------------------------
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
......................
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
......................
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
......................
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
......................
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
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
Exercises for
Lymphedema
http://www.lymphedemapeople.com/wiki/doku.php?id=exercises_for_lymphedema
Diuretics are
not for Lymphedema
http://www.lymphedemapeople.com/wiki/doku.php?id=diuretics_are_not_for_lymphedema
Lymphedema
People Online Support Groups
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_people_online_support_groups
Lipedema
http://www.lymphedemapeople.com/wiki/doku.php?id=lipedema
Treatment
http://www.lymphedemapeople.com/wiki/doku.php?id=treatment
Lymphedema and
Pain Management
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_and_pain_management
Manual
Lymphatic Drainage (MLD) and Complex Decongestive Therapy (CDT)
Infections
Associated with Lymphedema
http://www.lymphedemapeople.com/wiki/doku.php?id=infections_associated_with_lymphedema
How to Treat a
Lymphedema Wound
http://www.lymphedemapeople.com/wiki/doku.php?id=how_to_treat_a_lymphedema_wound
Fungal
Infections Associated with Lymphe
http://www.lymphedemapeople.com/wiki/doku.php?id=fungal_infections_associated_with_lymphedema
Lymphedema in
Children
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_in_children
Lymphoscintigraphy
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphoscintigraphy
Magnetic
Resonance Imaging
http://www.lymphedemapeople.com/wiki/doku.php?id=magnetic_resonance_imaging
Extraperitoneal
para-aortic lymph node dissection (EPLND)
Axillary
node biopsy
http://www.lymphedemapeople.com/wiki/doku.php?id=axillary_node_biopsy
Sentinel Node
Biopsy
http://www.lymphedemapeople.com/wiki/doku.php?id=sentinel_node_biopsy
Small
Needle Biopsy - Fine Needle Aspiration
http://www.lymphedemapeople.com/wiki/doku.php?id=small_needle_biopsy
Magnetic
Resonance Imaging
http://www.lymphedemapeople.com/wiki/doku.php?id=magnetic_resonance_imaging
Lymphedema
Gene FOXC2
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_foxc2
Lymphedema Gene VEGFC
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_vegfc
Lymphedema Gene SOX18
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_sox18
Lymphedema
and Pregnancy
http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_and_pregnancy
Home page: Lymphedema People
http://www.lymphedemapeople.com
Page Updated: Jan. 9, 2012