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What Is Dysmorphism?

By Maggie J. Hall
Updated Mar 03, 2024
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Dysmorphism refers to physical characteristics, sometimes associated with medical conditions, that are present from birth. Dysmorphic features or syndromes may occur because of genetic abnormalities, prenatal infections, or birth trauma. Down's syndrome represents a well-known example of dysmorphism and produces recognizable physical features and a variety of medical concerns. Some patients seek medical intervention because of self-esteem issues related to physical anomalies. Other patients require medical monitoring and care as these syndromes can create cardiac irregularities or affect other body systems.

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

When multiple features occur, physicians generally diagnose the infant with a particular dysmorphic syndrome. Down's syndrome children, for example, usually have dysmorphic faces with a flattened appearance and slanted eyes, a small mouth, and small, low set ears. These children often have speech impediments and lower than average intelligence. Frequently, individuals with Down's syndrome also experience gastrointestinal disorders, heart defects, hearing, and respiratory problems.

Inherited disorders or genetic defects affecting the blood or internal organs are sometimes considered dysmorphic conditions. Bone marrow that is unable to produce red and white blood cells, along with platelets occurs in infants born with Fanconi anemia. Babies with this disorder may also develop skeletal anomalies. Singular traits or dysmorphism syndromes often arise from genetic defects. Chromosomes may align or connect in a sequence improperly somewhere during fetal development.

Normally chromosomes occur in pairs, but occasionally, single chromosomes do appear, a condition known as monosomy. In certain instances, a triplet or trisomy may replace a chromosomal pair, resulting in dysmorphic tendencies. Physicians suggest that women over the age of 35 have a greater risk of passing chromosomal abnormalities onto an infant, as ova generally deteriorate with age. Problems can also arise during labor and delivery that result in the newborn receiving too little oxygen, which may induce trauma and dysmorphism in an otherwise normally developed infant. Dysmorphism might also occur in infants, whose mothers abuse alcohol, use certain prescription and over-the-counter medications, or use illicit drugs while pregnant.

Some very famous people have lived successful lives despite having dysmorphism. Thought to be extremely unattractive by many in his day, researchers attribute Abraham Lincoln's tall, thin, angular appearance to a form of dysmorphism. Famous composer Wolfgang Amadeus Mozart had an unusually shaped skull, which many now believe was a dysmorphic feature.

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