Dysmorphic

Dysmorphic Features

Dysmorphic features refer to physical characteristics that are notably different from the typical variations seen in the general population. These features can be indicative of underlying genetic conditions or syndromes. Medical professionals, particularly those in genetics and pediatrics, often assess dysmorphic features to aid in diagnosis.

Definition

Dysmorphic features are distinct physical anomalies that may be present at birth or develop over time. These features can affect any part of the body, including the face, limbs, and internal organs. They are often used as clues in diagnosing congenital disorders.

Common Dysmorphic Features

Some common dysmorphic features include:

• **Microcephaly**: A condition where the head circumference is smaller than normal for the age and sex of the child.
• **Hypertelorism**: An increased distance between two body parts, often referring to the eyes.
• **Epicanthic folds**: Skin folds of the upper eyelid covering the inner corner of the eye.
• **Cleft lip and palate**: Openings or splits in the upper lip and/or roof of the mouth.
• **Polydactyly**: The presence of extra fingers or toes.

Causes

Dysmorphic features can result from a variety of causes, including:

• **Genetic mutations**: Changes in DNA that can lead to abnormal development.
• **Chromosomal abnormalities**: Such as Down syndrome, which is caused by an extra copy of chromosome 21.
• **Environmental factors**: Exposure to certain drugs, alcohol, or infections during pregnancy.

Diagnosis

The diagnosis of dysmorphic features typically involves:

• **Clinical examination**: A thorough physical examination by a healthcare professional.
• **Family history**: Gathering information about any similar features or conditions in family members.
• **Genetic testing**: Tests such as karyotyping or whole exome sequencing to identify genetic abnormalities.

Management

Management of dysmorphic features depends on the underlying cause and associated conditions. It may include:

• **Surgical interventions**: To correct physical anomalies such as cleft lip and palate.
• **Therapies**: Physical, occupational, or speech therapy to address developmental delays.
• **Genetic counseling**: Providing information and support to affected individuals and their families.

Prognosis

The prognosis for individuals with dysmorphic features varies widely depending on the specific condition and its severity. Some individuals may lead normal lives with minimal intervention, while others may require ongoing medical care.

See Also

• Congenital disorder
• Genetic counseling
• Pediatric genetics

References

• Jones, K. L. (2013). Smith's Recognizable Patterns of Human Malformation. Elsevier Health Sciences.
• Carey, J. C., & Hall, B. D. (2009). Dysmorphology: An approach to diagnosis. Pediatrics in Review, 30(10), 382-390.