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Primordial dwarfism

Primordial dwarfism (PD) is a 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, even as a fetus. Most individuals with primordial dwarfism are not diagnosed until they are about 3–5 years of age.

Causes
It is known that PD is caused by inheriting a mutant gene from each parent, or from a mutation in the fetus. 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, except in the case of Russell–Silver syndrome (RSS). Individuals with RSS respond favorably to growth hormone treatment. Children with RSS that are treated with growth hormone before puberty may achieve several inches of additional height. In January 2008, it was published that mutations in the pericentrin gene (PCNT) were found to cause primordial dwarfism. Pericentrin has a role in cell division, proper chromosome segregation and cytokinesis. Another gene that has been implicated in this condition is DNA2. Mutations in this gene have been implicated in Seckel syndrome. ==Diagnosis==
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 == Notable cases ==
Notable cases
Jyoti Amge - Indian actress, world's shortest woman since her 18th birthday on 16 December 2011 • Caroline Crachami – known as the "Sicilian Fairy", she was the first person recognized to have primordial dwarfism. Her remains were displayed in the Hunterian Museum in Scotland • Chandra Bahadur Dangi – smallest man of all time • Nelson de la Rosa – Dominican actor/television personality who frequently appeared at 2004 Boston Red Sox playoff games • Aditya Dev – world's smallest bodybuilder • Bridgette Jordan and Brad Jordan – siblings • Khagendra Thapa Magar – world's shortest man from his 18th birthday on 14 October 2010 to 13 June 2011 • Gul Mohammed – former smallest man of all time • He Pingping – world's shortest ambulatory man until his death in 2010 • Weng Weng – Filipino actor and martial artist • Lucía Zárate – Mexican entertainer and first person identified to have MOPD IIKenadie Jourdin-Bromley – nicknamed Thumbelina, she has been featured in several movies and documentaries, including Eep!, Incredibly Small, and Born Different. • Sienna Bernal – world's rarest discordant twinning • Afshin Esmaeil Ghaderzadeh - Iranian Kurdish internet celebrity, the current Guinness World Records holder of shortest living man since December 2022. • Köksal Bektaşoğlu - known by his alias Köksal Baba, Turkish internet celebrity and former boxer ==See also==
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