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Achondroplasia in children is the most common form of dwarfism; it accounts for about 70% of all cases of dwarfism. [1] Achondroplasia falls into the category of “disproportionate dwarfism”. It is linked to a mutation in the fibroblast growth factor receptor-3.
Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. [3] It is the most common cause of dwarfism [4] and affects about 1 in 27,500 people. [3]
Dwarfism is a condition of people and animals marked by unusually small size or short stature. [1] In humans, it is sometimes defined as an adult height of less than 147 centimetres (4 ft 10 in), regardless of sex; the average adult height among people with dwarfism is 120 centimetres (4 ft).
X-ray of the spine in a patient with spondyloepimetaphyseal dysplasia Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [ 3 ] The protein made by this gene forms type II collagen , a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous ).
Childhood dementia is very often diagnosed late, misdiagnosed, or not diagnosed at all. [9] A correct diagnosis happens, on average, 2 years or more after symptoms become apparent. Additionally, children affected by childhood dementia are often misdiagnosed with: Autism [16] [9] [17] Developmental or intellectual delay [16] [9] ADHD [9] Others [9]
Dwarfism, low-birth-weight type with unresponsiveness to growth hormone is a very rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and other anomalies. Only 2 cases have been described in medical literature.
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.
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.