Syndromes Associated with Lymphatic Dysplasia - Page Seven
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Other Syndromes Associated With Lymphatic Dysplasia
*Aarskog syndrome
(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)
*Intestinal Lymphangiectasia.
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 syndrome
(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
*Lymphedema-Microcephaly-Chorioretinopathy
*Lymphedema-Ptosis (eyelids).
Gene location: 16q24.3.
*Lymphedema- Osteopetrosis-Ectodermal
*Dysplasia-Anhidrotic-Immunodeficiency or OL-EDA-ID syndrome (Duffinger et al. 2001).
Gene location: Xq28.
*Pulmonary Cystic Lymphangiectasis (Franck J., Pipper P.G., 1959)
*Nevo Syndrome
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)
*PEHO syndrome:
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.
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(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
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