The disease picture of Rhizomelen Chondrodysplasia punctata autosomal recessive (Typ 1)
The Chondrodysplasia punctata means a group of diseases, Congenital calcification of articular cartilage in the joint are. In addition, a number of other symptoms. There were several different types of inheritance and very different course described. The Rhizomele Chondrodysplasia leads to shortened Humerus and Femur, to vertebral changes, Cataract, Skin lesions and severe mental Retardierung. The cause is an autosomal recessive disorder in the metabolism of Peroxisomen. The majority of the patients have mutations in the gene PEX7.
Characteristic symptoms of RCDP:
· Shortened upper arms and thighs
· Deformed vertebrae (Schmetterlingsform)
· Small head circumference
· Low body length
· Mental Retardation
· Stiff, painful joints
· Increased risk of pneumonia
· Heart Defects (Not all children)
· Low Life
The prognosis for children with RCDP:
The future prospects for children with RCDP are badly unthinkable. Survive, according to a study by the Kennedy Krieger Institute 60% the child's first birthday, 39% the second year and only a few reach the 10. Age. According to a report by Prof. Dr. Spranger, there was once a child, even 16 Years old was.
Explanation of the importance of the disease name:
autosomal recessive (The Inheritance)
According to an interview with the Human Genetics is the RCDP as follows:
Ca. each 50.000 Residents of Germany has a genetic, never appears, and so absolutely unremarkable and it would never give rise to the idea of family planning will be investigated. However, if both (both mother and father) have these genetic, is the child a "little angel". There is nothing, that someone would have done wrong or could have been prevented. This genetic existed for several generations in the family.
Means that upper arms and thighs are shortened.
Describes a group of Bone, whose main appearance Kalkeinspritzer the spot in the epiphyses (End of long bones) are.
Generally speaking, RCDP that children are extremely vulnerable to infections. It is as if these little angels all germs and viruses regelrecht attract. Thus, lung inflammation, Bronchitis, Middle ear infection and conjunctivitis, and sore throat for the next sad.
The digestive tract is also one of the "problem children" of RCDP children. Due to the lack of movement (and in consequence of any epilepsy medication) there is little bowel. Thus the daily bowel evacuation for special attention (mostly in the form of a laxative and / or use of Klistieren).
Because of mental retardation, many children in RCDP Epilepsy, some already from birth, Some develop only during the first 5 Life Years.
Also, the control of body temperature of these particular children very difficult, which expresses the fact that the limbs (especially of the feet) are usually strongly undercooled, while the torso and the head are very well-tempered.