3m syndrome
| 3m syndrome | |
| ICD-10 | Q87.1 |
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| ICD-9 | xxx |
| OMIM | 273750 |
| DiseasesDB | 33510 |
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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
- ↑ 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