disorders

COACH Syndrome

COACH syndrome, also known as Joubert syndrome with hepatic defect,[1] is a rare autosomal recessive genetic disease. The name is an acronym of the defining signs: cerebellar vermis aplasia, oligophrenia, congenital ataxia, coloboma and hepatic fibrosis. The condition is associated with moderate intellectual disability.[2] It falls under the category of a Joubart Syndrome-related disorder (JSRD)

Posted September 17, 2022 by Anusha ‐ 3 min read

⌖ diseases treatments syndromes disorders health coach-syndrome

TAR Syndrome

TAR syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count.

Posted September 17, 2022 by Anusha ‐ 2 min read

⌖ diseases treatments syndromes disorders health tar-syndrome

CHILD Syndrome

CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side of the body. Other abnormalities may be present, as well.

Posted September 18, 2022 by Anusha ‐ 3 min read

⌖ diseases treatments syndromes disorders health child-syndrome

Larsen Syndrome

Larsen syndrome is a rare genetic disorder that has been associated with a wide variety of different symptoms. Characteristic findings of the disorder include dislocations of the large joints, skeletal malformations, and distinctive facial and limb features.

Posted September 18, 2022 by Anusha ‐ 3 min read

⌖ diseases treatments syndromes disorders health larsen-syndrome

PAPA Syndrome

PAPA syndrome is inherited in an autosomal dominant fashion, which means that there is a 50% chance that a child will inherit the disease from an affected parent. It usually begins with arthritis at a young age, with the skin changes more prominent from the time of puberty.

Posted September 18, 2022 by Anusha ‐ 2 min read

⌖ diseases treatments syndromes disorders papa-syndrome health