Dysmorphism: Syndromes


Dysmorphology is the study of human congenital malformations and combines concepts and knowledge of different medical fields, including embryology, paediatrics and clinical genetics.

Keywords: dysmorphism; malformation; syndrome; mosaicism; imprinting

Figure 1.

Clinical examples representing (a) a disruption of the fore‐arm; (b) a malformation consisting of a polydactyly; and (c) a deformation of the feet, in this case club feet.

Figure 2.

Clinical example of (a) a minor anomaly, consisting of syndactyly of toes II and III; (b) a major anomaly, in this case a neural tube defect or spina bifida.


Further Reading

Aase JM (1990) Diagnostic Dysmorphology. New York: Plenum Medical Book Company.

Epstein CJ (1995) The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects. Proceedings of the National Academy of Sciences of the USA 92(19): 8566–8573.

Gorlin RJ, Cohen MM and Levin SL (2001) Syndromes of the Head and Neck, 4th edn. Oxford: Oxford University Press.

Jones KL (1996) Smith's Recognizable Patterns of Human Malformation, 5th edn. Philadelphia, PA: Saunders W.B.

Marden PM, Smith DW and McDonald MJ (1964) Congenital anomalies in the newborn infant, including minor variations. A study of 4,412 babies by surface examination for anomalies and buccal smear for sex chromatin. Journal of Pediatrics 64: 357–371.

Shapira SK (1998) An update on chromosome deletion and microdeletion syndromes. Current Opinion in Pediatrics 10(6): 622–627.




Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Van Esch, Hilde, and Fryns, Jean‐Pierre(Jan 2006) Dysmorphism: Syndromes. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0001880]