Primordial+Dwarfism


 * Primordial Dwarfism**


 * Description**

Primordial dwarfism is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth, although most people are not diagnosed until three years of age. There are five sub-types of this disease - Seckel syndrome, osteodysplastic primordial dwarfism type I, osteodysplastic primordial dwarfism type II, Russell-Silver syndrome, and Meier-Gorlin syndrome. Primordial dwarfism is caused by inheriting a mutant gene from each parent. It is estimated that there are only a few hundred people in the whole world that are primordial dwarfs.


 * Characteristics**

People diagnosed with primordial dwarfism are born with low birth weight and after birth, growth continues at a stunted rate. Their lifespan is around 30 years. Primordial dwarfs’ height is caused by skeletal or endocrine disorders and the dwarfs with osteodyplastic primordial dwarfism type II have an increased risk of vascular problems.


 * Types of Primordial Dwarfism**


 * Seckel syndrome
 * Osteodyplastic primordial dwarfism type I
 * Osteodyplastic primordial dwarfism type II
 * Russell-Silver syndrome
 * Meier-Gorlin syndrome


 * Seckel Syndrome**

People with Seckel Syndrome are said to have microcephaly. Many also suffer from scoliosis, hip dislocation, delayed bone age, radial head dislocation, and seizures. Mutations in patients with Seckel syndrome have recently been identified in the gene encoding centrosomal protein CEP152.


 * Osteodyplastic primordial dwarfism type I**

The corpus callosum of the brain is often undeveloped, and patients are known to have seizures and apnea. Hair thinness is also common, including scalp, hair, eyelashes and eyebrows. They suffer skeletally from a short spine, lengthened collar bone, bent thigh bone, and hip displacement. Similar to those with Seckel Syndrome, they also often have microcephaly.


 * Osteodyplastic primordial dwarfism type II**

Patients have further medical issues, such as squeaky voice, microdontia, widely spaced primary teeth, poor sleep patterns (in early years), delayed mental development, frequent sickness, breathing problems, eating problems, hyperactivity, farsightedness, and brain aneurysms. After reviewing x-rays it is also found that many have dislocated joints, scoliosis, and delayed bone age as well as microcephaly. They will not reach the size of an average newborn until they are between the ages of 3-5.


 * Russell-Sliver Syndrome**

The final height of those with Russell-Silver Syndrome often exceeds the height of others with primordial dwarfism. Some characteristics of people who have Russell-Silver Syndrome are inadequate compensatory growth in first 2 years, body asymmetry, lack of appetite, low-set posteriorly rotated ears, inward curving of the 5th finger, webbed toes, weak muscle tone, delayed bone age, downturned corners of mouth & thin upper lip, high pitched voice, small chin, delayed closure of the fontanel, hypoglycemia, and a bossed forehead. Their heads may appear to be triangular shaped and large for their small body size.


 * Meier-Gorlin Syndrome**

Peocple with Meier-Gorlin Syndrome often have small ears and no kneecaps. They are also found to have curved collar bones, narrow ribs, and elbow dislocation. Like Russel-Silver Syndrome, they usually exceed the height of the other primordial dwarfs. It is also known as "ear, patella, short stature syndrome" (EPS).






 * References**

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