Search results
Results from the WOW.Com Content Network
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).
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] In those with the condition, the arms and legs are short, while the torso is typically of normal length. [3]
Achondroplasia falls into the category of “disproportionate dwarfism”. It is linked to a mutation in the fibroblast growth factor receptor-3. More than 250,000 people in the world are diagnosed with achondroplasia. Achondroplasia diagnosis occurs somewhere between one in every 10,000 and one in every 30,000 live births. [2]
Laron syndrome (LS), also known as growth hormone insensitivity or growth hormone receptor deficiency (GHRD), is an autosomal recessive disorder characterized by a lack of insulin-like growth factor 1 (IGF-1; somatomedin-C) production in response to growth hormone (GH; hGH; somatotropin). [6]
It is thought that chondrodystrophy [2] is caused by an autosomal, recessive allele.To avoid a potential "lethal dose", both parents can be genetically tested.If a child is conceived with another carrier the outcome may be lethal, or the child may suffer from chondrodystrophy or dwarfism. [3]
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 ).
TikTok star Bella Brave has died from a combination of rare health issues.. In a post shared on Instagram, the 10-year-old social media personality’s mother, Kyla, confirmed her daughter’s ...
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.