Is Marshall syndrome hereditary?

Because Marshall syndrome is an autosomal dominant hereditary disease, physicians can also note the characteristic appearance of the biological parent of the child.

What is Marshall White syndrome?

Marshall–White syndrome is a skin condition that consists of Bier spots associated with insomnia and tachycardia.

What is Marshall-Smith Syndrome?

Disease at a Glance Marshall-Smith syndrome (MRSHSS) is a genetic disorder in which individuals typically have advanced bone age, difficulties gaining weight (failure to thrive), unique facial features, and intellectual disability.

Who discovered Marshall syndrome?

1 Introduction. Marshall syndrome (MS) was described for the first time by Dr. Gary Marshall in 1987. In 1989, MS was defined as recurrent fever associated with pharyngitis, cervical adenopathy, and aphthous stomatitis (Periodic Fever, Aphthous stomatitis, Pharyngitis and cervical Adenitis—PFAPA).

How common is Marshall syndrome?

Marshall-Smith Syndrome is a rare disorder that has only been documented in about 50 individuals worldwide. It appears to affect males and females equally. Symptoms are typically present at birth, such as the previously escribed characteristic facial features.

What is the Marshall Gene?

General Discussion. Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the COL11A1 gene. Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss.

Who gets Bier spots?

Bier spots (syn: Angiospastic macules, physiologic anemic macules, exaggerated physiologic speckled mottling of skin) most commonly occur in young adults aged 20-40 years affecting females more often than males.

What causes Schwartz Jampel syndrome?

Schwartz-Jampel syndrome is caused by mutations in the HSPG2 gene. This gene provides instructions for making a protein known as perlecan. This protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells.

What is periodic fever?

Periodic fever syndromes refer to diseases that cause periodic (episodic) fever that do not have an infectious (virus, bacteria) cause. In general, children with these syndromes are well between episodes.

What is periodic fever syndrome?

PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis) is a childhood syndrome that affects both boys and girls. It causes repeated episodes of fever, mouth sores, sore throat, and swollen lymph nodes. PFAPA usually starts in early childhood between ages 2 and 5.

Should I worry about Bier spots?

Bier spots are small, light macules usually found on the arms and legs of young adults, in which the intervening skin may seem erythematous but blanches with pressure so that these light macules disappear. This is a benign physiologic vascular anomaly of no significance clinically.