Dysmorphie

Dysmorphie, in medical genetics, refers to abnormal body morphology characterized by deviations from typical craniofacial and bodily structures. The term is used to describe dysmorphic features—structural traits that differ from the usual pattern and may indicate an underlying genetic condition. Dysmorphie features can be major anomalies that affect function or minor anomalies that are nonspecific but occur more frequently in certain syndromes. The presence of a constellation of dysmorphic features often prompts genetic evaluation.

Causes of dysmorphie include genetic factors such as chromosomal abnormalities, copy-number variations, and single-gene disorders, as well as non-genetic factors like in utero exposures or maternal conditions. In many cases dysmorphie is part of a broader syndrome, but it can also be isolated with subtle features.

Diagnosis relies on careful phenotyping by a dysmorphologist or clinical geneticist, including measurement of facial landmarks, hands and feet, and overall body proportions, along with a thorough family history. Features are classified as major or minor anomalies to help assess the likelihood of a syndromic diagnosis. Genetic testing may be pursued, ranging from karyotyping and chromosomal microarray to targeted gene panels or exome sequencing, depending on the suspected condition. Phenotype-genotype databases and resources support interpretation.

Management is typically multidisciplinary and tailored to the individual, addressing associated medical issues, development, and surveillance for potential comorbidities. Genetic counseling provides information on recurrence risk and family planning options. Dysmorphie remains a central concept in clinical genetics for diagnosing and understanding congenital anomalies.