Marden Walker Syndrome
According to rarediseases.org:
Marden-Walker syndrome is a rare connective tissue disorder that is inherited as an autosomal recessive trait. Patients with this disorder typically have a distinct facial expression, a cleft or high-arched palate, small or receding jaw (micrognathia), bone joints in a fixed position, growth delay and limited control of muscle movement.
Patients with Marden-Walker syndrome have distinct facial features including an abnormality of the jaw, droopy eyelids, a flat bridge of the nose, low-set ears, and a fixed facial position.
Other characteristics of this disorder are curvature of the spine causing a hunchback, bent joints that will not move (joint contractures), a cleft or high-arched palate, growth delay, and slow muscle movement.
Other symptoms of Marden-Walker syndrome may include a small head circumference, heart abnormalities, an irregular sexual and urinary system, a decrease in bone mass, a breastbone that pushes out or sinks in, a small projecting piece of tissue on the front of the outer ear (preauricular tag), abnormally small eyes, a short neck, a small mouth and/or a low hairline.
A condition in which extra tissue causes obstruction of the small intestine (duodenal bands); narrowing of the ring that separates the stomach from the first part of the small intestine causing a blockage in the flow of partly digested food (pyloric stenosis); and/or loss of appetite, failure of the body to absorb nutrients adequately, stomach pain and weight loss caused by a condition in which there are not enough pancreatic hormones or enzymes (pancreatic insufficiency) have all been associated with Marden-Walker syndrome.
Other characteristics of this disorder are curvature of the spine causing a hunchback, bent joints that will not move (joint contractures), a cleft or high-arched palate, growth delay, and slow muscle movement.
Other symptoms of Marden-Walker syndrome may include a small head circumference, heart abnormalities, an irregular sexual and urinary system, a decrease in bone mass, a breastbone that pushes out or sinks in, a small projecting piece of tissue on the front of the outer ear (preauricular tag), abnormally small eyes, a short neck, a small mouth and/or a low hairline.
A condition in which extra tissue causes obstruction of the small intestine (duodenal bands); narrowing of the ring that separates the stomach from the first part of the small intestine causing a blockage in the flow of partly digested food (pyloric stenosis); and/or loss of appetite, failure of the body to absorb nutrients adequately, stomach pain and weight loss caused by a condition in which there are not enough pancreatic hormones or enzymes (pancreatic insufficiency) have all been associated with Marden-Walker syndrome.
AFFECTED POPULATIONS
Marden-Walker Syndrome is a very rare disorder that affects males more often than females with a ratio of 11 to 3. There have been approximately twenty cases reported in the medical literature.
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