By What causes Adam Oliver Syndrome?
When caused by mutations in the DOCK6 or EOGT gene, Adams-Oliver syndrome is inherited in an autosomal recessive pattern . In conditions with this pattern of inheritance, both copies of the gene in each cell have mutations.
How many people in the world have Adams-Oliver Syndrome?
Affected Populations Adams-Oliver syndrome is an extremely rare disorder that appears to affect males and females in equal numbers. More than 125 affected individuals have been reported in the medical literature.
What is Bart’s syndrome?
Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities.
What causes Nonsyndromic aplasia cutis congenita?
In some cases, nonsyndromic aplasia cutis congenita is caused by exposure to a drug called methimazole before birth. This medication is given to treat an overactive thyroid gland . Babies whose mothers take this medication during pregnancy are at increased risk of having the condition.
What is Wolf Hirschhorn disease?
Wolf-Hirschhorn syndrome is an extremely rare chromosomal disorder in which the WHSCR (Wolf Hirschhorn syndrome critical region) on the short arm of chromosome 4 is missing (deleted). In most instances, additional material around the WHSCR is deleted as well. Chromosomes are found in the nucleus of all body cells.
What causes Cutis aplasia?
Aplasia Cutis Congenita is a rare disorder that may be inherited as an autosomal dominant or autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
Can aplasia cutis be treated?
Treatment of aplasia cutis congenita varies depending on the condition of the infant. Conservative treatment is preferred. Small areas usually heal on their own over time. Gentle cleansing and application of bland ointments or silver sulfadiazine can help prevent infection.
How common is aplasia?
Aplasia Cutis Congenita is a very rare disorder that affects males and females in equal numbers. At least five hundred cases have been reported in the medical literature. Absence of skin is obvious at birth (congenital).
Who is the oldest person with Wolf-Hirschhorn syndrome?
Clinical and cytogenetic studies are reported on 13 patients with Wolf-Hirschhorn syndrome. The oldest of the living twelve probands is 24 years of age.