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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.
These genes code for proteins involved in hair shaft formation and improvement often occurs in later childhood. [10] [9] Uncombable hair syndrome is mainly autosomal recessive, but it can also be autosomal dominant because there are other involved genes that have yet to be identified. [5] [10]
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 ...
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 ...
Autosomal recessive woolly hair. Autosomal recessive pattern is the inheritance manner of this condition. Causes. Mutations in the LIPH, LPAR6 or KRT2 genes. Woolly hair autosomal recessive is a rare hereditary hair disorder characterized by sparse, short, curly hair. [1]
The genetic cause of this disorder was described in 2007. [16] This disorder is due to a haploinsufficiency of the transcription factor 4 ( TCF4 ) gene which is located on the long arm of chromosome 18 (18q21.2) The mutational spectrum appears to be 40% point mutations, 30% small deletions/insertions and 30% deletions.
Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into tricho – "hair", thio – "sulphur", and dystrophy – "wasting away" or literally "bad nourishment". TTD is associated with a range of symptoms connected with organs of the ectoderm and ...