Schwartz-Jampel syndrome

aka

• Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular and Facial Anomalies
• Schwartz-Jampel-Aberfeld Syndrome
• Chondrodystrophic Myotonia
• SJA Syndrome/SJS        

"A syndrome characterised by growth retardation, peculiar facies, skeletal anomalies, and myotonia. Muscles become increasingly stiff and may be hypertrophies as well as myotonic. Skeletal and articular disorders consist chiefly of limitation of motion of the hips, wrist, toes, and spine, short vertebrae with brevicollis, fragmentation and flattening of femoral epiphyses, pectus carinatum, acetabular dysplasia, and coxa vara. Because of stoff hips, the gait becomes waddling and progressively difficult. Tha face has a normal appearance at birth, but develops into a masklike facies with puckered lips, eyes upward slanting, blepharophimosis, and ptosis of the eyelids because of tonic contractions of the facial muscles. Hypoplastic facial bones. Associated defects include a high-pitched voice, low hairline, low-set small ears, small testes, high-arched palate, and occasiona pes euinovarus. ..."

(whonameit.com)

7:09:23 PM    

Tackling Heart Disease

National Service Framework for Coronary Heart Disease

"Coronary heart disease is among the biggest killers in this country. More than 1.4 million suffer from angina. 300,000 have heart attacks every year. More than 110,000 die of heart problems in England every year. But the effects of heart disease are unequal: among unskilled men the death rate is almost three times higher than it is among professionals. These differences have more than doubled in the past twenty years ..."

7:06:31 PM