Primordial dwarfism
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 diagnostic category including specific types of profoundly proportionate dwarfism, in which individuals are extremely small for their age, beginning from their conception. Most individuals with primordial dwarfism are recognized by medical professionals while they are still in the womb.
Medical professionals typically diagnose the fetus as being small for the gestational age, or as having intrauterine growth retardation when an ultrasound is conducted. Typically, people with primoridal dwarfism are born with very low birth weights. After birth, growth continues at a stunted rate, leaving individuals with primordial dwarfism perpetually years behind their peers in stature and in weight.
Estimates in the United States for individuals born with dwarfism range from 100,000 to 500,000. Most cases of short stature are caused by skeletal or endocrine disorders. The five subtypes of Primordial Dwarfism are the most severe forms of the 200 types of dwarfism, and it is estimated that there are only 100 individuals in the world with the disorder,[1]. Other sources list the number of persons currently afflicted as high as 100 in North America.
It is rare for individuals affected by primordial dwarfism to live past the age of 30.[2] In the case of microcephalic osteodysplastic primordial dwarfism (MOPD) type II there can be increased risk of vascular problems, which may cause premature death.[3]
Diagnosis
Since primordial dwarfism disorders are extremely rare, misdiagnosis is common. Because children with PD do not grow like other children, poor nutrition, a metabolic disorder, or a digestive disorder may be diagnosed initially. The correct diagnosis of PD may not be made until the child is 5 years old and it becomes apparent that the child has severe dwarfism.
Types of Primordial Dwarfism
Seckel Syndrome People with Seckel Syndrome are noted to have microcephaly, or in other words a smaller head than is proportionate. Many also suffer from scoliosis (spinal curvature), hip dislocation, delayed bone age radial head dislocation and seizures.
Osteodysplastic Primordial Dwarfism, Type I(ODPDI) This form of Primordial Dwarfism is often shorten to ODPDI. Inside of their brains, their corpus callosum is often undeveloped (called agenesis of the corpus callosum) and they are known to have seizures and apnea. Hair thinness is also common, including scalp hair eyelashes and eyebrows. They suffer skeletally from a short vertebrae, enlongated clavicles (collarbone), bent femora (femur, thighbone) and hip displacement. Like those with Seckel Syndrome they also often have microcephaly.
Osteodysplastic Primordial Dwarfism, Type II Those who have ODPDII often have further medical issues than the other types such as a squeaky voice, microdentia (small teeth), widely spaced primary teeth, poor sleep patterns (in early years), delayed mental development, frequent sickness, breathing problems, eating problems, hyperactive, farsightedness, and do not respond to hormone therapy because Primordial Dwarfism is not caused by a lack of any growth hormone. After reviewing X-Rays it is also found that many have dislocated joints, scoliosis, and delayed bone age as well as, again, microcephaly. They will not reach the size of an average newborn until they are between the ages of 3-5.
Russel-Silver Syndrome The final height of those with Russel-Silver Syndrome often exceeds the height of others with Primordial Dwarfism, and all in all they are very different. Some properties of people who have Russel-Silver Syndrome are webbed toes, non-descended testicles (in males), weak muscle tone, delayed bone age, thin upper lip, hypospadius (unusual location of the urethra hole), high pitched voice, small chin, delayed closure of the fontanel (soft spot), hypoglycemia (low blood sugar), and a broad forehead. Their heads may appear to be triangular shaped and large for their small size.
Meier-Gorlin Syndrome Meier-Gorlin Syndrome is known for its victims having small ears and no kneecaps. They are also found to have curved clavicles (collarbone), skinny ribs, and elbow dislocation. Like Russel-Silver Syndrome, they usually exceed the height of those with Seckel Syndrome and ODPDI and II.
Causes and treatment
There are as yet no effective treatments for primordial dwarfism. It is known that PD is caused by inheriting a mutant gene from each parent.[4] The lack of normal growth in the disorder is not due to a deficiency of growth hormone, as in hypopituitary dwarfism. Administering growth hormone, therefore, has little or no effect on the growth of the individual with Primordial Dwarfism. In January 2008, it was published that mutations in the pericentrin gene (PCNT) were found to cause primordial dwarfism.[5] Pericentrin has a role in cell division, proper chromosome segregation, and cytokinesis suggesting these processes are important.
Notable people believed to have primordial dwarfism
- Nelson de la Rosa - Late actor linked to the Red Sox.
- Lucia Zarate - First person identified to have MOPD II.[6]
- Weng Weng - Late Filipino actor and martial artist
- Aditya Dev - World's Smallest Bodybuilder
- Gul Mohammed - World's Shortest Adult until 1997
- He Pingping - World's Shortest Adult
References
- ^ TLC :: TV Listings :: Daily Schedule
- ^ As seen on the 2006 TLC/Channel Four program on primordial dwarfism, The Smallest People in the World,
- ^ American Journal of Medical Genetics
- ^ National Geographic Channel Presents: Science of Dwarfism
- ^ Rauch, A. (2008). "Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism". Science. 319 (5864): 816. Retrieved 2008-04-18.
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7. http://www.primordialdwarfism.com/medmain3.htm