Developmental Disorders of the Lymphatics

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Saturday, October 15, 2005

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-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.


(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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