Laminopatie SistemicheSystemic laminopathies
 
 
 
 
 
 
 
 
   LaminopathiesSystemic laminopathies

SYSTEMIC LAMINOPATHIES

 

  • MANDIBULOACRAL DYSPLASIA

 

Mandibuloacral dysplasia (MAD) is a genetic disorder  affecting bone, adipose tissue and skin. Onset is in infancy. Osteolysis of clavicles, mandible and phalanges (fingers) occurs. Partial lipodystrophy with accumulation of adipose tissue in the neck is typical of MAD type A.   A mild premature aging is observed.

Genes Table

 

 

  • ATYPICAL WERNER SYNDROME (a-WS)

 

Atypical Werner Syndrome occurs during childhood and causes premature aging in adulthood. Bone defects and cardiovascular disease could be present. Muscle-related cases have been reported.

Genes Table

 

 

  • ATYPICAL PROGERIA

Genes Table

 

 

  • HEART-HAND SYNDROME (HHS)

 

Heart-Hand Syndrome occurs in adulthood and causes dilated cardiomyopathy with conduction defects and bone defects in fingers of hands and feet. Sudden death may occur because of myocardial infarction.

Genes Table

 

 

  • HUTCHINSON-GILFORD PROGERIA SYNDROME

 

Hutchinson-Gilford progeria (HGPS) is a rare disorder causing premature aging in children. Onset is in  the first year of life and manifests with hair loss and reduced growth rate.  Aged-looking skin is observed, and cardiovascular disease causes death around 13 years.

Genes Table

 

 

  • RESTRICTIVE DERMOPATHY

 

Restrictive dermopathy is a neonatal lethal disorder.  It affects skin (with a doll-like appearance) and bone. Resorption of clavicles occurs prior to birth. Death occurs due to respiratory failure soon after birth.

Genes Table


Copyright © 2008 Webmaster