Lymphedema People Logo

Lymphedema Congenital Recessive Syndrome



Pat O'Connor

June 8, 2008


247440 Links


The possibility of an autosomal recessive form of congenital lymphedema was raised by Kajii and Tsukahara (1985), who described brother and sister. The parents were not known to be related but came from an island with a population of 1,500 in the Sea of Japan. Kajii and Tsukahara (1986) cited a similar experience of brother and sister with congenital lymphedema of the lower extremities and no associated malformations. Mucke et al. (1986) observed 2 brothers with chronic congenital lymphedema and proposed the existence of an X-linked or recessive form. In addition to edema of the limbs, they had abnormalities of the external genitalia as a deformation sequence resulting from intrauterine edema and had intestinal lymphedema. A prominent feature also was chemosis and injection of the conjunctiva. 


1. Kajii, T.; Tsukahara, M. :
Congenital lymphedema in two siblings. Jpn. J. Hum. Genet. 30: 31-34, 1985.
2. Kajii, T.; Tsukahara, M. :
Autosomal recessive lymphedema? (Letter) Jpn. J. Hum. Genet. 31: 57 only, 1986.
3. Mucke, J.; Hoepffner, W.; Scheerschmidt, G.; Gornig, H.; Beyreiss, K. :
Early onset lymphoedema, recessive form--a new form of genetic lymphoedema syndrome. Europ. J. Pediat. 145: 195-198, 1986.
PubMed ID : 3769974


Victor A. McKusick : 10/16/1986


terry : 6/5/2001

Online Mendelian Inheritance in Man


Congenital lymphedema, unilateral choanal atresia, pericardial effusion, high arched palate and preauricular pits: A possible new autosomal recessive syndrome.

 a.m nadroo, e. lieber, m. zak, i. bialik, d. menos. pediatrics, new york methodist hospital, brooklyn, NY.

   Congenital lymphedema was described by Milroy as an autosomal dominant condition in 1928. Other congenial abnormalities have been described in association with congenital lymphedema, leading to proposals of autosomal dominant, autosomal recessive and X-linked dominant modes of inheritance. We describe a patient with a familial congenital lymphedema, choanal atresia, pericardial effusion and preauricular pits-a possibly undescribed constellation of features. The proband is a 19-year-old female. She was admitted for cellulitis of her left hand. Physical examination revealed lymphedema of lower extremities, both hands and forearms. The patient had preauricular pits and a high arched palate. No other dysmorphic features were noted. She had normal vision and hearing. A review of her records showed that she was a product of a consanguineous marriage and a normal pregnancy, born at 37 weeks of gestation. Her birth weight was 3200g. At the age of one month she had corrective surgery for a left-sided choanal atresia, diagnosed shortly after birth. At the age of 19 months,she developed progressive swelling of both lower extremities, diagnosed as lymphedema. She was admitted for pericardial effusion on three occasions, at the ages of 12, 13 and 14 years. Echocardiograms and renal sonograms failed to reveal any underlying structural cardiac or renal abnormalities. However, the third episode of pericardial effusion was treated with pericardiotomy. The patient has had a normal developmental course and is an average student. Chromosomal studies showed a normal karyotype of 46, XX. There are eight other family members with a variety of phenotypic expressions similar to those present in the patient, all resulting from consanguineous marriages. All the parents are phentypically normal. Three individuals have all five of the phenotypic features present in the patient, including two brothers of the proband.The association of familial lyphedema with unilateral choanal atresia, pericardial effusion, high arched palate and preauricular pits, discloses a possible new autosomal recessive syndrome.


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.


Pat O'Connor

Lymphedema People / Advocates for Lymphedema


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 Infections Associated with Lymphedema

For information on Lymphedema in Children

Lymphedema Glossary


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.



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!




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. We are also working on hundred more.  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 Lymphe dema 

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

Home page: Lymphedema People

Page Updated: Dec. 28, 2011