Gene symbol: COL11A1 Disease: Marshall Syndrome

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Several mutations causing Stickler syndrome have been found in the COL2A1 gen...

Marshall/Stickler syndrome.

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

Mice that are homozygous for the autosomal recessive chondrodysplasia (cho) mutation die at birth with abnormalities in cartilage of limbs, ribs, mandible, and trachea. Limb bones of newborn cho/cho mice are wider at the metaphyses than normal bones and only about half the normal length. By linkage analysis, the cho gene and the gene encoding the alpha 1 (XI) chain of cartilage collagen XI were...

[A case of Marshall-Smith syndrome].

Marshall-Smith syndrome (MSS) is a rare clinical disorder, characterized by accelerated skeletal maturation, facial anomalies, failure to thrive and death in early infancy due to respiratory complications. We experienced the difficult airway case with MSS. A 4-year-old boy underwent tenosynovectomy for the snapping finger. Although his upper airway was diagnosed as almost normal on the fiber-op...

Marshall syndrome – a challenge in medical practice