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It is believed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding the ataxia telangiectasia and Rad3-related protein which maps to chromosome 3q22.1–q24. This gene is central in the cell's DNA damage response and repair mechanism.
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]
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).
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]
Phytohemagglutinin. CHH is an autosomal recessive [2] inherited disorder. It is a highly pleiotropic disorder. A rarely encountered genetic phenomenon, known as uniparental disomy (a genetic circumstance where a child inherits two copies of a chromosome from one parent, as opposed to one copy from each parent) has also been observed with the disorder.
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.
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Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene that results in a disproportionately short stature, micromelia [3] and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.