Primordial Dwarfism

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Primordial Dwarfism

​Primordial dwarfism is a very rare occurring form of dwarfism in which the body is proportionately formed, but the individual is very small compared to other forms of dwarfism. This form of dwarfism begins in the womb and can be diagnosed during pregnancy as a small fetus. These individuals are born with low weight and are very short in height. ​In the United States, there are about 100,00 to 500,000 individuals born with dwarfism,100 individuals in the world with primordial dwarfism and 40 of them in the US. For Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II), the most severe case, there are about 100 patients in the United States and Canada meaning 1 in 3 million people are infected with MOPD. There are also known cases of individuals affected with MOPD Type II in Ireland, Germany, Holland, Slovenia, Italy, Poland, Spain, Portugal, Turkey, Pakistan, India, Saudi Arabia, Iraq, Iran, Lebanon, Australia, New Zealand and South America. ​Primordial dwarfism occurs in the five following ways: Russell-Silver Syndrome, Seckel Syndrome, Meier-Gorlin Syndrome, Majewski Osteodysplastic Primordial Dwarfism Types I/III (MOPD Type I/III) and Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II). In Russell-Silver syndrome, a child will have difficulty feeding and growing. They have distinctive facial features and may have asymmetric limbs, webbed toes, non-descended testicles (in males), weak muscle tone, and delayed bone age. Although the individual will be shorter than average, this syndrome does not affect life expectancy. Seckel syndrome is an inherited form of primordial dwarfism and individual with this syndrome usually have microcephaly. Many also suffer from scoliosis, hip dislocation, delayed bone age, radial head dislocation, and seizures. Meier-Gorlin Syndrome is a disorder characterized by small ears, absent kneecaps and short stature and has an autosomal recessive pattern of inheritance. Majewski...
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