Tag: Autosomal recessive

Affecting less than 1 in 1,000,000 newborns, ABCD disorder, also known as ABCD syndrome, is a rare autosomal recessive genetic condition characterized by a specific combination of abnormalities. This authoritative guide will break down the complexities of this disorder, which is now understood to be a form of Waardenburg syndrome.

Metachromatic Leukodystrophy (MLD) is a rare inherited disorder, affecting approximately 1 in 40,000 to 160,000 individuals globally. This progressive and fatal condition is a result of specific genetic mutations. This article explores **what causes MLD**, delving into the genetic and biochemical pathways that lead to this devastating disease.

With fewer than 400 cases reported worldwide, Urbach-Wiethe disease (UWD) is an extremely rare genetic condition. Often mistakenly referred to as the **Urban Wiethe syndrome**, it is an autosomal recessive disorder that affects the skin, mucous membranes, and internal organs due to the deposition of hyaline-like material.

Affecting approximately 1 in 300,000 to 1 in 500,000 people, factor VII (7) deficiency is a rare inherited bleeding disorder that is distinct from traditional haemophilia, which primarily refers to deficiencies in factor VIII or IX.

According to the Alliance for Regenerative Medicine, more than 20 million people worldwide suffer from symptomatic inherited blood disorders. These conditions are caused by genetic mutations that disrupt the normal function of blood cells or the blood clotting process, fundamentally changing an individual's health trajectory.

Affecting approximately 1 in 500,000 people, factor VII deficiency is the most common of the rare, inherited bleeding disorders. While it is a hereditary bleeding disorder like hemophilia, **is factor VII deficiency a form of hemophilia**?

As of 2018, only 84 cases of Juvenile Hyaline Fibromatosis, also known as Murray-Puretic-Drescher syndrome, had been reported, making this an extremely rare genetic disorder. This condition, often referenced incorrectly as 'murray syndrome,' is characterized by the abnormal growth of hyalinized fibrous tissue in the body.

First described in 1991, Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by multiple complex developmental abnormalities. This article explores the important question: **Who discovered Temtamy syndrome?**, and details the pioneering work that brought this condition to light.

COACH syndrome, the disease known by the acronym COACH, is an extremely rare genetic condition with fewer than one in a million people estimated to be affected. Here, we explore the specifics of which disease is called coach disease, detailing its symptoms, causes, and treatment options.

Hennekam syndrome is a very rare genetic disorder of the lymphatic system, with about 100 cases reported in medical literature. The signs and symptoms of this condition can vary significantly among affected individuals, even within the same family. The answer to what is the life expectancy of someone with Henekam syndrome is not a single number, but rather depends heavily on the severity of the illness.