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Dermatoglyphics, when correlated with genetic abnormalities, aids in the diagnosis of congenital malformations at birth or soon after.. Klinefelter syndrome: excess of arches on digit 1, more frequent ulnar loops on digit 2, overall fewer whorls, lower ridge counts for loops and whorls as compared with controls, and significant reduction of the total finger ridge count.
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Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. [1] [2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.
Adermatoglyphia is an extremely rare genetic disorder that prevents the development of fingerprints.Five extended families worldwide are known to be affected by this condition.
The predominant clinical symptoms of wrinkly skin syndrome are wrinkled and inelastic skin over the face, backs of hands/fingers, tops of feet, and abdomen; delayed closure of the fontanelle (baby's soft spot), and increased palmar and plantar creases in the hands and feet, respectively.
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.
Netherton syndrome is an autosomal recessive disorder associated with mutations in the SPINK5 gene, which encodes the serine protease inhibitor lympho-epithelial Kazal-type-related inhibitor (). [2]
Stiff skin syndrome (also known as "Congenital fascial dystrophy" [1]) is a cutaneous condition characterized by ‘rock hard’ induration, thickening of the skin and subcutaneous tissues, limited joint mobility, and mild hypertrichosis in infancy or early childhood.