Rare syndromes are not hard to recognize
Breuning, M.
Nederlands Tijdschrift Voor Geneeskunde 157(21): A6085
2013
ISSN/ISBN: 1876-8784 PMID: 23693010 Document Number: 665940
The number of recognizable rare syndromes continues to increase. Van der Linde et al. describe a combination of osteoarthritis at a young age and thoracic aneurysms and dissections caused by mutations in the SMAD3 gene. A patient with such a rare syndrome can be hard to distinguish from the many patients with arthritis. The clinician should therefore take a thorough family history and should have a keen eye for the extraordinary. For example, osteoarthritis at a young age is unusual. In addition, sudden death of one or more family members below the age of 50 is alarming and should not be ignored. The same holds for other rare syndromes. An accumulation of cases in the family at unusually young ages or unusual combinations of disorders should alert the clinician to the possible presence of a rare syndrome. Databases like PubMed or OMIM (On Line Mendelian Inheritance in Man) should be consulted to verify the suspicion and to make an adequate referral.