Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limbs DefectsSymptoms, Doctors, Treatments, Advances & More
Learn About Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limbs Defects
CHILD syndrome is a condition that affects the development of several parts of the body. The name of the condition is an acronym of the major features: congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The signs and symptoms of this disorder may vary from person to person, but they are typically limited to only one side of the body ("hemi-" means "half," and "dysplasia" refers to abnormal growth). The right side of the body is affected more often than the left side.
Variants (also called 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, 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 that covers nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids.
CHILD syndrome is a rare disorder; fewer than 100 people with this condition have been reported in the medical literature. This condition occurs almost exclusively in females.
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two copies of the X chromosome), a variant in one of the two copies of the gene in each cell is sufficient to cause the disorder, although the signs and symptoms may be mild.
Rudolf Happle practices practicing medicine in Marburg An Der Lahn, Germany. Mr. Happle is rated as an Elite expert by MediFind in the treatment of Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limbs Defects. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limbs Defects, Ruvalcaba Syndrome, and Phacomatosis Pigmentokeratotica.
ETSU Physicians & Associates- Pediatrics
. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limbs Defects. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.
Atrium Health Levine Children's Nephrology
Donald Weaver is a Pediatric Nephrologist practicing medicine in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limbs Defects. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is board certified in American Board Of Pediatrics and American Board Of Pediatrics, Pediatric Nephrology. Dr. Weaver is currently accepting new patients.
Background: Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage. The data gained in this study may help researchers find ways to measure how well future treatments work.
Published Date: July 18, 2024
Published By: National Institutes of Health