Kecacatan yang membawa kematian

Kecacatan yang membawa mati

Child Syndrome

https://rarediseases.info.nih.gov/diseases/6039/child-syndrome

CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. The development of organs such as the brain, heart, lungs, and kidneys may also be affected.^[1] Several cases in which milder signs and symptoms have been reported in the medical literature.^[2] The condition is caused by mutations in the NSDHL gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. CHILD syndrome is inherited in an X-linked dominant fashion and is almost exclusively found in females.^[1]

https://www.sciencedirect.com/topics/medicine-and-dentistry/child-syndrome

CHILD syndrome is characterized by a striking phenotype consisting of congenital hemidysplasia, unilateral ichthyosiform erythroderma, and limb defects and also is known as unilateral congenital ichthyosiform erythroderma. CHILD syndrome is an X-linked disorder that shares some features with the X-linked dominant Conradi syndrome, with CHILD syndrome classically showing extreme lateralization and asymmetric skin lesions compared to the Conradi syndromes (Konig et al, 2002). Most cases of CHILD syndrome are caused by a mutation of the NADPH steroid dehydrogenase–like (NSDHL) protein gene, which has been mapped to Xq28 (Grange et al, 2000; Konig et al, 2000). This steroid dehydrogenase functions upstream of the sterol isomerase, which is defective in X-linked dominant Conradi syndrome in the cholesterol biosynthesis pathway. There have also been cases of mutations in the same EBP gene of X-linked Conradi syndrome that also included CHILD syndrome (Traupe and Has, 2000).

Apa yang menyebabkan gene bermutasi?

Pendedahan bahan kimia berbahaya kepada ibu sama ada melalui pernafasan, pemakanan, minuman mahupun penyerapan melalui kulit di awal fasa mengandung boleh menyebabkan Gene mutasi.

CHILD Syndrome

Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs

https://emedicine.medscape.com/article/1110427-overview

CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome is a rare disorder characterized by birth defects of several organ systems, including the skin, viscera, musculoskeletal system, and central nervous system. The earliest description of the syndrome has been attributed to Otto Sachs in 1903, who comprehensively described the clinical features of CHILD syndrome in an 8-year-old girl. ^[1] This was followed by a report in 1948 by Zellweger and Uelinger, who reported a patient with a "half-sided osteochondrodermatitis and nevus ichthyosiformis." ^[2] In 1980, Happle et al reviewed 18 previous cases and introduced two additional cases; they proposed the acronym CHILD syndrome for congenital hemidysplasia, ichthyosiform erythroderma, and limb defects. ^[3]In 2010, Knape et al reported the first case of CHILD syndrome with ocular manifestations in a patient with progressive bilateral optic nerve atrophy. ^[4]

Since then, other patients with a similar constellation of defects have been described under a number of designations, including unilateral ichthyosiform erythroderma, unilateral erythrokeratoderma, unilateral epidermal nevus, unilateral ectromelia, inflammatory variable epidermal nevus, and unilateral limb and skin deformities with congenital heart disease.

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

https://ghr.nlm.nih.gov/condition/congenital-hemidysplasia-with-ichthyosiform-erythroderma-and-limb-defects#statistics

Description

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side.

People with CHILD syndrome have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and usually does not affect the face. The skin abnormalities are present at birth and persist throughout life.

CHILD syndrome also disrupts the formation of the arms and legs during early development. Children with this disorder may be born with one or more limbs that are shortened or missing. The limb abnormalities occur on the same side of the body as the skin abnormalities.

Additionally, CHILD syndrome may affect the development of the brain, heart, lungs, and kidneys.

Frequency:

CHILD syndrome is a rare disorder; it has been reported in about 60 people worldwide. This condition occurs almost exclusively in females.

Causes:

Mutations in the NSDHL gene cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, fish, and dairy products. Although high cholesterol levels are a well-known risk factor for heart disease, the body needs some cholesterol to develop and function normally both before and after birth. Cholesterol is an important component of cell membranes and the protective substance covering nerve cells (myelin).

Additionally, cholesterol plays a role in the production of certain hormones and digestive acids.

The mutations that underlie CHILD syndrome eliminate the activity of the NSDHL enzyme, which disrupts the normal production of cholesterol within cells. A shortage of this enzyme may also allow potentially toxic byproducts of cholesterol production to build up in the body's tissues. Researchers suspect that low cholesterol levels and/or an accumulation of other substances disrupt the growth and development of many parts of the body. It is not known, however, how a disturbance in cholesterol production leads to the specific features of CHILD syndrome.

Inheritance Pattern

This condition has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition.

Most cases of CHILD syndrome occur sporadically, which means only one member of a family is affected. Rarely, the condition can run in families and is passed from mother to daughter.

Researchers believe that CHILD syndromeoccurs almost exclusively in females because affected males die before birth. Only one male with CHILD syndrome has been reported.

.