Dysmorphic feature

Article summary

: microcephalia, micrognathia and protrusion of the eyeballs A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals. Clinical geneticists and pediatricians are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood. Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, syndrome or association. Recognizing the patterns of dysmorphic features is an important part of a geneticist's diagnostic process, as many genetic disease present with a common collection of features. There are several commercially available databases that allow clinicians to input their observed features in a patient to generate a differential diagnosis.…

Key claims

No claims recorded.

Discussion questions

1. Summarise the article in your own words. Which single claim would you verify first, and why?
2. Which claim in this article is most likely to be revised as the sources update? How would you check its current status?
3. If two sources disagreed about one of these facts, what would you need in order to trust one over the other?

Bibliography

No sources recorded.