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Menkes disease. Menkes disease (MNK), also known as Menkes syndrome, [ 1 ][ 2 ] is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, [ 3 ] leading to copper deficiency. [ 4 ][ 5 ] Characteristic findings include kinky hair, growth failure, and nervous system deterioration.
Uncombable hair syndrome (UHS) is a rare structural anomaly of the hair with a variable degree of effect. It is characterized by hair that is silvery, dry, frizzy, wiry, and impossible to comb. [4] It was first reported in the early 20th century. [5] It typically becomes apparent between the ages of 3 months and 12 years. [6]
Giant axonal neuropathy is a rare, autosomal recessive [ 1] neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function. A distinguishing feature is its association with kinky, or curly, hair; in ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
t. e. Genetic discrimination occurs when people treat others (or are treated) differently because they have or are perceived to have a gene mutation (s) that causes or increases the risk of an inherited disorder. It may also refer to any and all discrimination based on the genotype of a person rather than their individual merits, including that ...
Ectodermal dysplasia. A patient displaying peg-shaped teeth and sparse hair characteristic of ectodermal dysplasia. Specialty. Medical genetics. Ectodermal dysplasia (ED) is a group of genetic syndromes all deriving from abnormalities of the ectodermal structures. [1]: 570 More than 150 different syndromes have been identified.
Familial woolly hair is autosomal recessive. [2] It may be part of a syndrome such as Naxos syndrome, due to passing on of mutations in the JUP gene. [4] When part of Carvajal syndrome, it is due the passing of mutations of the Desmoplakin gene. [4] The two syndromes caused by two different genes, are considered as one entity; Naxos–Carvajal ...
Monilethrix is caused by mutations affecting the genes KRTHB1 , KRTHB3 , or KRTHB6 which code for type II hair cortex keratins. [12] The disorder is inherited in an autosomal dominant manner. [2] This means that the defective gene(s) responsible for the disorder is located on an autosome, and only one copy of the gene is sufficient to cause the ...