Developmental Disorders of the Lymphatics

An information blog for disorders of the lymphatics. For all articles, please click on "Archives" - Due to spammers, I will no longer allow comments, sorry.

Friday, October 14, 2005

Syndromes Associated With Lymphatic Dysplasia - Page One

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Syndromes Associated With Lymphatic Dysplasia


There are many, rare syndromes associated with lymphatic dysplasia where in the patient will present with lymphedema. Therefore it is useful to include them in the website.

I especially want to express my deep appreciation to Dr. Bruno Chikly for his very kind permission in allowing us to use and reproduce information from his book Silent Waves Theory And Practice Of Lymph Drainage Therapy. His books and works have brought hope and much needed information to countless thousands throughout the world coping with lymphedema and lymphatic disorders.

Also, I want to acknowledge other sources of information.

I have included many entry articles from OMIM, Online Mendelian Inheritance in Man provided by Johns Hopkins University. As a person who has done extensive research and search, I have come to a great respect and admiration for their unending work in presenting top quality information to both professionals and lay people alike.

Much information has been gathered as well from Pub Med, a section of the National Library of Medicine. A special note of thanks is due them as well for their service to the public.

Another excellant source of medical information provided by the government is Medline Plus. This is a service of the U.S. National Library of Medicine and the National Institutes of Health

Finally, we must also mention the National Organizations of Rare Disorders. They provide valuable and hard to find information on a vast compendium of rare and little understood diseases and conditions.


Syndromes Associated With Lymphatic Dysplasia

1- Aagenaes (lymphedema-cholestasis) syndrome
2- Distichiasis (lymphedema-distichiasis) syndrome
3- Dahlberg (lymphedema-hypoparathyroidism syndrome)
4- Fabry's disease
5- Gorham-Stout-Haferkamp syndrome
6- Hennekam’s syndrome
7- Klinefelter syndrome
8- Klippel-Trenaunay syndrome
9- Maffucci’s syndrome:
10- Melkersson - Rosenthal - Miescher syndrome
11- Noonan syndrome
12- Trisomy 10
13- Trisomy 13
14- Trisomy 18
15- Trisomy 21
16- Trisomy 22
17- Turner syndrome
18- Von Recklinghausen’s fibromatosis
19- Yellow nail syndrome
20- Other syndromes associated with lymphatic dysplasia


Aagenaes (Lymphedema-cholestasis) syndrome

First description: Aagenaes and associates (Norway), 1968.
OMIM (Online Mendelian Inheritance in Man database) reference number: 214900
Synonyms: Cholestasis-lymphedema-syndrome (CHLS), Lymphedema-cholestasis syndrome (LCS or LCS1), Cholestasis Aagenaes, Cholestasis hereditary Norwegian type.
Genetics: Chromosome 15q. Autosomal recessive inheritance.
Localization: About 2/3 of the cases reported are in Norway.

Onset: usually puberty.

Clinical description:

1- Hepatologic manifestations
Chronic recurrent cholestasis (bile flow obstruction)
Postnatal icterus (jaundice)
The liver may be enlarged; intrahepatic obstructive liver disease and capillary hemangiomata may also occur. The disease may slowly evolve to hepatic cirrhosis and giant-cell hepatitis with fibrosis.
2- Lymphologic manifestations
Lymphedema develops during childhood as a result of lymphatic hypoplasia. This occurs most frequently in the lower extremities, but the condition infrequently affects upper extremities, and rarely the face or lungs.


See Also:

Syndromes Associates with Lymphatic Dysplasia



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