Click for a larger image
[Dysmorphism] is a medical term formed by the prefix [dys-] meaning "abnormal", the root term [-morph-], arising from the Greek word [μορφος] (morfos), meaning "form" or "shape", and the suffix [-ism], also of Greek origin, in this case meaning "condition". A condition of abnormal shape, or "misshapen".
The term dysmorphism is used to denote an anatomical anomaly, usually superficial, that goes beyond the objective (and sometimes subjective) boundaries of normalcy. An example of these are craniofacial dysmorphisms associated with specific congenital disorders, such as Crouzon syndrome; birth defects such as hemifacial microsomia, or as in the case of the image on this article, Mevalonate Kinase Deficiency, a metabolic disease.
Some craniofacial dysmorphisms can affect articulation and speech, such as cleft palate, cleft lip (harelip), prognathism, and retrognathism.
Dysmorphism is also used in some mental disorders where the patient has an abnormal self-image, seeing his/her body or body parts as abnormal, when they are not. This is known as Body Dysmorphic Disorder (BDD), and can be associated with obsessive-compulsive behavior, anxiety, or depression. In some cases BDD can be associated or found in eating disorders such as Anorexia Nervosa, or bulimia.
The image shows a small child with mevalonic aciduria, a deficiency of mevalonate kinase deficiency. This is a rare genetic autosomal recessive metabolic disorder.
Thanks to Maria E. Gallegos, Chair of the Speech Pathology School, Iberoamerican University, Santiago Chile, for suggesting this article. Dr. Miranda
Image Source: Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 1, 13. 2006. PMID 16722536. DOI:10.1186/1750-1172-1-13 Image in the public domain
