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.
- 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.
- ATYPICAL PROGERIA
- 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.
- 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.
- 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.