What are 3 facts about Morquio syndrome?

Short stature, with a very short torso. Abnormal bone and spine development, including severe scoliosis. Bell-shaped chest with ribs flared out at the bottom.

What is Morquio A mucopolysaccharidoses?

Listen. Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome , is a rare metabolic condition in which the body is unable to break down long chains of sugar molecules called glycosaminoglycans.

Who was the first person to discover Morquio’s syndrome?

Morquio’s syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of either the enzyme N-acetyl-galactosamine-6-sulfate sulfatase (Morquio A) or enzyme beta-galactosidase (Morquio B). It was first described in 1929 by Luis Morquio, a paediatrician from Uruguay, and James Brailsford, a radiologist from the UK.

Who is Freak The Mighty and what is Morquio syndrome?

Freak the Mighty. Morquio Syndrome is a rare, inherited (both parents must carry the gene) disease of metabolism which causes birth defects. Dr. Luis Morquio and Dr. James Brailsford discovered Morquio Syndrome in 1929. Although Dr. Morquio described the syndrome first, Dr. Brailsford described the syndrome as well.

What kind of metabolic disease is Morquio syndrome?

Morquio syndrome (MPS IV) is a metabolic disorder and a type of mucopolysaccharidosis and is an inherited autosomal recessive mucopolysaccharides storage disease.

How often does Morquio syndrome occur in children?

Morquio syndrome is a rare inherited birth defect that is estimated to occur in one of every 200,000 births.

Morquio’s syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of either the enzyme N-acetyl-galactosamine-6-sulfate sulfatase (Morquio A) or enzyme beta-galactosidase (Morquio B). It was first described in 1929 by Luis Morquio, a paediatrician from Uruguay, and James Brailsford, a radiologist from the UK.

Freak the Mighty. Morquio Syndrome is a rare, inherited (both parents must carry the gene) disease of metabolism which causes birth defects. Dr. Luis Morquio and Dr. James Brailsford discovered Morquio Syndrome in 1929. Although Dr. Morquio described the syndrome first, Dr. Brailsford described the syndrome as well.

Morquio syndrome is a rare inherited birth defect that is estimated to occur in one of every 200,000 births.

Why is Morquio syndrome an autosomal recessive disorder?

Morquio syndrome. Morquio syndrome is a rare metabolic disorder in which the body cannot process certain types of mucopolysaccharides (long chains of sugar molecules), which the body uses as lubricants and shock absorbers. This birth defect, which is autosomal recessive, is thus a lysosomal storage disorder that is usually inherited.