3M SYNDROME

'3M syndrome' (also spelt 'Three M syndrome' and also known as 'dolicospondylic dysplasia', 'gloomy syndrome' and 'le Merrer syndrome'), is a very rare condition having only been reported in 32 patients.http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2616^[1] The name 3M originates from the initials of the 3 authors who made the first description. The major symptom caused by 3M is dwarfism, characteristic facies and radiological abnormalities among many others.^[2] There are no reports of individuals of this condition to show signs of mental retardation. 3M syndrome is thought to be inherited as an autosomal recessive genetic trait.^[3][4] Prenatal diagnosis is possible by ultrasonography. A treatment which possibly alleviates the dwarfism symptom is to use growth hormones to increase the height of the individual.

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References

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References

1. http://rarediseases.info.nih.gov/asp/diseases/diseaseinfo.asp?ID=5667
2. The 3-M syndrome. A heritable low birthweight dwarfism, Van Goethem H, Malvaux P, , , Helvetica paediatrica acta, 1987
3. The 3-M syndrome: a heritable low birthweight dwarfism, Miller JD, McKusick VA, Malvaux P, Temtamy S, Salinas C, , , Birth Defects Orig. Artic. Ser., 1975
4. http://www.ich.ucl.ac.uk/ich/academicunits/MMU/Research

External links

★ GeneReviews: 3-M Syndrome