Syndromes Associated with Lymphatic Dysplasia - Page Seven
Our Home Page: Lymphedema People
Other Syndromes Associated With Lymphatic Dysplasia
(short stature, hypertelorism, and abnormal scrotum). Probably X-linked recessive disorder.
*Alpha-Galactosidase B deficiency (Galb) or N-Acetyl-Alpha-D-Galactosaminidase deficiency (NAGA).
These syndromes may lead to progressive neurologic abnormalities (psychomotor retardation).
Gene location: 22q11.
*Congenital disorder of Glycosylation, Type Ib (Carbohydrate-Deficient Glycoprotein syndrome Type Ib; Gastrointestinal type Mannosephosphate Isomerase deficiency). The clinical features include: severe psychomotor retardation and blood coagulation abnormalities (Jaeken et al. 1980)
Gene location: 15q22-qter.
*German syndrome :
arthrologic disorders, hypotonia-hypokinesia, and lymphedema (German J. et al., 1975).
*Hypotrichosis-Lymphedema-Telangiectasia Syndrome (Hlts)
Gene location: 20q13.33
*Idiopathic Hydrops Fetalis
(generalized edema of the fetus of non immunologic origin)
Also called “familial idiopathic dysproteinemia” (Homburger and Petermann, 1949). Patients with intestinal lymphangiectasia may have lower extremities lymphedema, vascular changes, hypogammaglobulinemia, lymphocytopenia, and skin anergy
(lissencephaly is characterized by microcephaly and a thickened cortex), Norman-Roberts Type. Gene location: 7q22.
*Lymphedema-Atrial Septal Defect-Facial Changes
*Lymphedema-Campomelia Cumming type (Cumming, W. A.; 1986).
Campomelia is characterized by an abnormal curvature of the long bones, especially from lower extremities.
*Lymphedema-Cerebral Arteriovenous malformations
Gene location: 16q24.3.
*Dysplasia-Anhidrotic-Immunodeficiency or OL-EDA-ID syndrome (Duffinger et al. 2001).
Gene location: Xq28.
*Pulmonary Cystic Lymphangiectasis (Franck J., Pipper P.G., 1959)
The patients affected by Nevo syndrome may have kyphosis, increased growth, volar edema, spindle-shaped fingers, hyperbilirubinemia, and generalized hypotonia (Nevo S. et al., 1974)
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (Salonen R. et al, 1991)
*Prolidase deficiency (PEPD).
Include: prolidase, imidodipeptidase, proline peptidase d deficiencies, dipeptidase and aminoacyl-l-proline hydrolase,.
Patient with PEPD may have dermatologic manifestations (particularly leg ulcers) and mental retardation.
Gene location: 19cen-q13.11
*Swyer syndrome, Gonadal dysgenesis, XY female type.
Pateints are female that do not develop secondary sexual characteristics at puberty and present streak gonads.
Gene location: Xp22.11-p21.2.
(Published with permission from the author of Silent Waves Theory And Practice Of Lymph Drainage Therapy (Ldt) With Applications For Lymphedema, Chronic Pain And Inflammation Author: Bruno Chikly, M.D.2000 Publisher: I.H.H.Publishing, Arizona. Isbn Hard Cover = 0-9700530-5-3