3M SYNDROME & TREATMENT
Definition: What is "3M Syndrome"?
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. & 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 & can be inherited.
Symptoms & Signs
The major symptoms of 3M syndrome are dwarfism, radiological & facies abnormal conditions. Other symptoms & 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 & 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 & bent fingers.
Diagnosis & Treatments: How to Treat "3M Syndrome"?
The best possible diagnosis can be done before the infant's birth. Prenatal screening can be done by the use of ultrasonography. Those patients who suffer from dwarfism could take growth hormones to improve their height. Those who have crowded teeth could consult an orthodontist. No psychological or psychiatric treatment is needed as the mental development of patients remains normal.
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 & postnatal retardation on growth would soon result.
Since there have been only 32 reported cases, 3M syndrome is classified as a rare disease. It has been reported that it is prevalent in North-East Brazil but other than this area, this disease remains uncommon.