What is dysmorphism?

Dysmorphism refers to physical characteristics, sometimes associated with medical conditions, that are present from birth. Dysmorphic characteristics or syndromes can occur due to genetic abnormalities, prenatal infections, or birth trauma. Down syndrome represents a well-known example of dysmorphism and produces recognizable physical characteristics and a variety of medical problems. Some patients seek medical intervention due to self-esteem issues related to physical abnormalities. Other patients require medical monitoring and care, as these syndromes can create heart irregularities or affect other body systems.

Non-life threatening bodily disorders include partial or complete straps between two or more fingers and toes, as well as the presence of more than 10 digits on the hands or feet. These abnormalities can occur as inherited family traits. Babies born with a cleft palate or with one or both hips dislocated are also examples of dysmorphism. The abnormalities can be visible structural differences or be related to the malfunction of a particular organ or body system.

When multiple features are present, doctors usually diagnose the baby with a particular dysmorphic syndrome. Children with Down syndrome, for example, generally have dysmorphic faces with a flattened appearance and slanted eyes, a small mouth, and small, lowered ears. These children often have speech impairments and lower than average intelligence. People with Down syndrome also often experience gastrointestinal disorders, heart defects, hearing, and breathing problems.

Hereditary disorders or genetic defects that affect the blood or internal organs are sometimes considered dysmorphic conditions. Bone marrow that cannot make red and white blood cells, along with platelets, occurs in babies born with Fanconi anemia. Babies with this disorder can also develop skeletal abnormalities. Unique traits or dysmorphic syndromes often arise from genetic defects. Chromosomes may line up or connect in the wrong sequence somewhere during fetal development.

Chromosomes normally occur in pairs, but individual chromosomes occasionally appear, a condition known as monosomy. In certain cases, a triplet or trisomy can replace a chromosome pair, resulting in dysmorphic tendencies. Doctors suggest that women over the age of 35 are at higher risk of passing chromosomal abnormalities to a baby, as eggs generally deteriorate with age. Problems can also arise during labor and delivery that cause the newborn to receive too little oxygen, which can induce trauma and dysmorphism in a normally developed baby. Dysmorphism can also occur in babies whose mothers abuse alcohol, use certain prescription and over-the-counter medications, or use illicit drugs during pregnancy.

Some very famous people have lived successful lives despite having dysmorphism. Researchers attribute Abraham Lincoln's tall, slim, and angular appearance to a form of dysmorphism, which many considered unappealing in his day. The famous composer Wolfgang Amadeus Mozart had a skull with an unusual shape, which many now believe to be a dysmorphic feature.

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