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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]
Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length. A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease. Disorder. Chromosome. Mutation.
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 ...
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.
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.
Tricho–dento–osseous syndrome (TDO) is a rare, systemic, autosomal dominant genetic disorder that causes defects in hair, teeth, and bones respectively. This disease is present at birth. TDO has been shown to occur in areas of close geographic proximity and within families; most recent documented cases are in Virginia, Tennessee, and North ...