Dysmorphisms

Dysmorphisms, in medical genetics, refer to abnormal body morphologies or structural anomalies that are present from birth (congenital) or develop early and may indicate an underlying genetic syndrome or teratogenic exposure. The term is often used to describe subtle or distinctive facial features but can apply to nonfacial findings such as limb or organ anomalies.

Dysmorphic features are evaluated in the context of dysmorphology, the study of pattern-based physical findings. Clinicians distinguish between major anomalies (significant structural changes requiring intervention) and minor anomalies (common or nonspecific findings that may occur in many individuals). A constellation of dysmorphic features can suggest a specific syndrome, particularly when accompanied by other signs such as growth delay, developmental concerns, or organ anomalies.

Common examples include facial features such as hypertelorism (wide-set eyes), epicanthal folds, low-set ears, a broad nasal bridge, and micrognathia, as well as limb or digit abnormalities. However, features vary among populations and individuals, and not all dysmorphic features indicate a syndrome.

Evaluation typically includes thorough clinical examination, family history, and sometimes genetic testing (karyotype, microarray, exome sequencing) or imaging studies. Interdisciplinary management may involve genetics, pediatrics, dermatology, and other specialties, depending on the associated condition.

Dysmorphisms are not diagnostic on their own; they contribute to pattern recognition and differential diagnosis. Understanding the pattern assists in risk assessment, prognosis, and counseling.