dysmorphic

Dysmorphic is an adjective used in medicine to describe abnormalities or variations in form that deviate from typical human morphology. In clinical genetics, the term is most often applied to dysmorphic features—facial and sometimes other somatic features—that may signal an underlying genetic syndrome or congenital anomaly.

Dysmorphic features can be minor or major, static or progressive, and may occur in isolation or as part of a recognizable pattern. Clinicians assess a constellation of findings rather than a single abnormality, since many disorders share overlapping features. Descriptions focus on specific facial regions (such as the eyes, nose, and mouth) and other body areas; patterns of features can guide differential diagnosis and testing.

Evaluation typically includes a detailed physical and developmental examination, growth history, and family history, followed by genetic testing such as chromosomal analysis, microarray, or targeted or exome sequencing. Photographs, measurements, and dysmorphology classifications may be used to document findings. The term underpins the field of dysmorphology, which studies patterns of morphological variation and their clinical relevance.

The word dysmorphic can also appear in psychiatry, where it may relate to body dysmorphic ideas or disorders; this use is distinct from its medical sense describing congenital or developmental abnormalities.