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3M Syndrome Report an error in disease page


3M syndrome is known by many names. It can also be called as Three M syndrome or dolicospondylic dysplasia; le Merrer syndrome or gloomy syndrome (because prevalent symptoms show malformities on the patients' faces). This is a very rare illness where only 32 patients have been reported to have acquired it. Its name originated from the names of the authors who first described the characteristics of the illness. The authors' names were Miller, J.D., Malvaux P. and the third is McKusick, V.A. No mental retardation has been mentioned as a result of 3M. This disorder is known as an autosomal recessive trait of the genes and can be inherited.


Symptoms and Signs

The major symptoms of 3M syndrome are dwarfism, radiological and facies abnormal conditions. Other symptoms and signs include: prominence of the muscles of the upper back; small chest area; stunted growth of a developing fetus; shoulder blades that protrude; shoulders that are squared; a short pinky; the heels of the feet looking prominent; hypogonadism; joints of the body become loose; abnormal location of the opening of the penis; abnormal birth weight (very low); a face that looks triangular; the bridge of the nose that appears sunken; bursting eyebrows; a chin that looks pointed; prominent mouth and lips; abnormalities of the skeletal system; just to name a few. It was also observed that the Russell Silver syndrome bears a few resemblances to 3M. Some less prevalent symptoms include crowding of teeth in children, cheeks that appear flat, and bent fingers.


It is believed that the mutation of the gene Cullin 7 could lead to the disorder. Cullin 7 belongs to a protein family which is responsible for the regulation of cell cycles. With 3M syndrome, the mutation would create a stop codon prematurely. With this, prenatal and postnatal retardation on growth would soon result.


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