Primordial dwarf
Primordial Dwarfism is a rare form of dwarfism that results in a smaller body size in all stages of life beginning from before birth. More specifically, primordial dwarfism is a category of disorders characterized by extreme growth delay.
Characteristics[edit | edit source]
Individuals with primordial dwarfism are usually proportionately small. That is, all parts of the body are smaller than normal, but they are proportional. This is in contrast to other forms of dwarfism where the head and trunk may be normal size but the limbs are short.
Types[edit | edit source]
There are several types of primordial dwarfism, including:
- Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): This is the most common type of primordial dwarfism. It is characterized by skeletal abnormalities, brain aneurysms, and other neurological problems.
- Seckel Syndrome: This is a type of primordial dwarfism characterized by a small head (microcephaly), mental retardation, and a distinctive facial appearance.
- Russell-Silver Syndrome: This type of primordial dwarfism is characterized by low birth weight, short stature, and limb-size asymmetry.
Causes[edit | edit source]
Primordial dwarfism is caused by mutations in specific genes. These mutations affect cell division and growth, which leads to the characteristic small size of individuals with these disorders. The exact genes involved vary depending on the specific type of primordial dwarfism.
Diagnosis[edit | edit source]
Diagnosis of primordial dwarfism is usually based on physical characteristics. Genetic testing can confirm the diagnosis and identify the specific type of primordial dwarfism.
Treatment[edit | edit source]
There is no cure for primordial dwarfism. Treatment is supportive and based on the specific symptoms and complications in each individual. This can include growth hormone therapy, physical therapy, and surgery to correct skeletal abnormalities.
Prognosis[edit | edit source]
The prognosis for individuals with primordial dwarfism varies depending on the specific type and the presence of complications such as brain aneurysms. With appropriate management, individuals with some types of primordial dwarfism can live into adulthood.
See also[edit | edit source]
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