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Dysmorphology and Genetics: Unraveling Patterns of Human Growth and Structural Defects

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Dysmorphology is the study to identify the patterns of growth of human and structural defects. Read the article to know more about it.

Written by

Hemamalini. R

Medically reviewed by

Dr. Kaushal Bhavsar

Published At September 21, 2023
Reviewed AtJanuary 9, 2024


In the 1960s, Dr. David Smith, USA, was the first to use the word dysmorphology. This term is derived from the Greek word where ''Dys'' means disordered or abnormal, while ''Morph'' indicates shape. The term "dysmorphic" describes people whose physical characteristics are unusual for people of the same age or ethnic background. It implies the study of a person's genetic flaws and abnormalities of physical structure that develop before birth. Traditionally, the study of dysmorphology has focused on the classification and description of congenital disabilities, the diagnosis of syndromes, and the assessment and counseling of affected people and their families. Current clinical procedures emphasize the usage of the term "difference" rather than "dysmorphology" or "deformity" to emphasize that these morphologies appear at the extremes of a normal distribution of the phenotype. This article elaborates on the characteristics, differences, and ways to approach dysmorphology.

What Is Dysmorphology?

Dysmorphology is the branch of genetics that involves the study that identifies the patterns of growth of human and structural defects. It includes malformation (an intrinsic developmental defect), disruption (an event that disrupts intrinsically normal development), deformation (an external force that changes the shape of development), and dysplasia (abnormal growth and maturation of cells). However, the child exhibiting dysmorphic symptoms does not have a severe deformity; rather, they may have a distinctive look compared to that of the general population and inconsistent with that of unaffected close relatives. A syndrome is an identifiable pattern of dysmorphic characteristics with a common cause.

What Is the Difference Between Dysmorphology and Clinical Genetics?

There is a lot of overlap, but dysmorphology studies birth deformities and abnormal development. Many do not have a hereditary cause. Dysmorphology takes a comprehensive approach to the issue of birth abnormalities. Clinical genetics investigates how changed genes affect both health and disease. Although many developmental syndromes have been established to have a genetic cause, some genetic abnormalities, such as those creating a predisposition to cancer, have nothing to do with congenital disabilities. While the two fields are related, they are not the same.

What Are the Characteristics of Dysmorphology?

Wide slack mouth, malocclusion, prominent upper lip, underdeveloped mandible, depressed nasal bridge, hypertelorism, epicanthic folds, low-set ears, increased bone density, craniostenosis (premature close of cranial sutures), and osteosclerosis (abnormal hardening of bone), particularly at the base of the skull, are some of the distinguishing features of this dysmorphology. In addition to this dysmorphology involves the study of abnormal physical traits or structural anomalies in individuals. Characteristics include atypical facial features, developmental abnormalities, indicative of congenital or genetic conditions, and body proportions. Diagnosing dysmorphology requires a comprehensive assessment by medical professionals considering physical and genetic aspects. There are various different characteristics of dysmorphology.

What Is the Importance of Seeking a Diagnosis for a Child Displaying Dysmorphic Signs?

Significant internal or external abnormalities, developmental delays, or a combination are common in dysmorphic children. The inability to provide a precise diagnosis and thus a presumptive cause, even when a diagnosis does not indicate that a therapeutic action will be implemented, can significantly disappoint a family. A precise diagnosis makes all of the accumulated information and experience of that condition available and provides a more accurate assessment of the risk of recurrence. It assists with prognosis and enables measures to help avoid, anticipate, or more effectively treat complications. In many countries, it makes it easier for people to acquire support, like financial and educational aid, and gives families access to certain support groups. Furthermore, a correct diagnosis is essential for identifying causal genes, interventions, and treatments.

What Is the Best Way to Approach a Dysmorphology Diagnosis?

Investigating the family history should go beyond the immediate patient's findings to seek partial signs of a syndrome or other deformities that different unbalanced products of a familial chromosomal rearrangement could cause. A thorough search for consanguinity should be done on the three-generation pedigree. The pregnancy history should include any previous miscarriages, parental occupation, and pregnancy planning at the time of exposure to drugs, medicines, conception, and alcohol, signs of maternal fever, rash, or illness, and information on fetal movement.

A general query about strange or unexpected incidents during the pregnancy may frequently reveal parental attitudes about causation, which must be considered when counseling. Events leading up to the delivery, such as signs of fetal distress, hydramnios or oligohydramnios, birth weight, length, head circumference, and the perinatal behavior of the child, may be necessary. If deemed to be noteworthy, original records should be obtained. A child with dysmorphic indications may be due to the stress of birth, and delay may mistakenly cause a birth injury. A thorough developmental history of milestones, official evaluations, and behavior is also necessary. Medical records should be obtained to validate any diagnosis or treatment of a deformity.

What Is the Role of the Dysmorphologist?

A Dysmorphologist will perform a thorough physical examination of all body systems to identify and diagnose individuals with atypical features and physical abnormalities. Any significant changes will be noticed. In addition, the overall appearance (gestalt) and the existence of any minor irregularities, defined as physical differences that occur in less than 5 percent of the population but are of minimal clinical relevance, in the face (e.g., upslanting palpebral, unique ear helix, nostrils) and other areas including the hands, genitalia, and skin, will be noted. Objective measurement and photographic documentation should be added to subjective observation whenever possible. They specialize in dysmorphology, examining skeletal, facial, and other physical features to recognize patterns indicative of congenital or genetic conditions. Dysmorphologists often work collaboratively with geneticists and other specialists to provide a correct diagnosis, genetic counseling, and guidance for further medical treatment.


The basics of dysmorphology involve discovering the underlying pathogenic process and whether the problem affects one or more systems. Accurately diagnosing a child with dysmorphic symptoms is vital because it makes all the knowledge about the relevant disease available and may allow the family to contact patient or parent support groups. In addition, a prognosis and management plan for the affected infant and genetic counseling for the parents is required.

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Dr. Kaushal Bhavsar
Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)


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