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Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth. [1] 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 .
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [1]) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. [2]
Microcephalic primordial dwarfism, Montreal type is a rare, multi-systemic genetic disorder that is characterized by cranio-facial dysmorphy, premature hair greying and balding, dry and wrinkled palms, skeletal abnormalities, cryptorchidism, premature dementia and intellectual disabilities of variable severity.
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a form of primordial dwarfism associated with brain and skeletal abnormalities. It was characterized in 1982. [1] MOPD II is listed as a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This indicates that MOPD (or a subtype of ...
Silver–Russell syndrome, also called Silver–Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell–Silver syndrome, and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism.
The syndrome was presented by a Saudi Arabian family with primordial dwarfism syndrome with LARP7 gene variations. [3] Some affected patients show the lack of voluntary coordination of muscle movements (ataxia), manifested as a clumsy walking pattern, with frequent trips or falls.
In humans, mutations in the XRCC4 gene cause microcephalic primordial dwarfism, a phenotype characterized by marked microcephaly, facial dysmorphism, developmental delay and short stature. [31] Although immunoglobulin junctional diversity is impaired, these individuals do not show a recognizable immunological phenotype.
The dwarfism is of the proportionate type and arises from a rare genetic mutation. [3] The population probably originated through intrafamily marriages. The condition has been shown [4] to have no effect on normal lifespan. In the late 1990s many residents of Itabaianinha under 15 years started receiving hormonal treatment.