
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
3m syndrome
Introduction
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.[1][2] The name 3M originates from the initials of the 3 authors who made the first description.[1] The major symptom caused by 3M is dwarfism, characteristic facies and radiological abnormalities among many others.[3][1] There are no reports of individuals of this condition to show signs of mental retardation.[1] 3M syndrome is thought to be inherited as an autosomal recessive genetic trait.[4][5][1] 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.[1]
References
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2616
- ↑ http://rarediseases.info.nih.gov/asp/diseases/diseaseinfo.asp?ID=5667
- ↑ Van Goethem H, Malvaux P (1987). “The 3-M syndrome. A heritable low birthweight dwarfism”. Helvetica paediatrica acta. 42 (2–3): 159–65. PMID 3692880.
- ↑ Miller JD, McKusick VA, Malvaux P, Temtamy S, Salinas C (1975). “The 3-M syndrome: a heritable low birthweight dwarfism”. Birth Defects Orig. Artic. Ser. 11 (5): 39–47. PMID 1218233.
- ↑ http://www.ich.ucl.ac.uk/ich/academicunits/MMU/Research
