Question

What is the difference between a congenital and a genetic disorder? Explain and give examples with rationales.

Answer 1

SNO	Characteristics	Congenital Disorder		Genetic Disorder
1.	Definition.	Congenital Disorder is a developmental abnormality identified during birth. Eg, Congenital diaphragmatic hernia.		Genetic disorder is a disease which occurs due to the action of the gene or several genes. Eg, Down’s Syndrome.
2.	Identification.	Congenital disorder can be identified by direct observation immediately after birth. Eg, Clubfoot deformity, cleft lip.		Genetic disorder can be identified directly (Down’s Syndrome), it can be identified through physiological process (Juvenile Diabetes Mellitus).
3	Types.	Congenital disorders are divided into two types,		Genetic disorders are divided into two types,
		Major Congenital Disorder. Eg, tracheoesophageal fistula.	Minor Congenital Disorder. Eg, cleft lip, cleft palate, clubfoot.	X-linked recessive. Eg, Color blindness.	Y –linked inheritance. Eg, Swyer syndrome.	X – linked dominant. Eg, Fragile X Syndrome.	Autosomal recessive. Eg, cystic fibrosis.
4.	Physiological Process.	It is a result of an insult to the embryo or fetus which occurs during development in the uterus. Eg, Spina bifida.		It occurs due to the biological code for the production of different types of structural proteins and changes in the DNA sequence that alters the synthesis of single gene product. Eg, Turner’s syndrome.
5.	Heredity.	May be or may not be a familial disorder.		Mostly familial disorder i.e., hereditary. Eg, Color blindness.
6.	Maternal Characteristics.	Congenital disorder occurs due to the maternal activities/maternal illness –hypothyroidism, diabetes, alcoholism, smoking, illicit drugs, HIV, TORCH infection, STD diseases, nutritional deficiencies. Eg, anorectal anomalies, congenital cataract, juvenile diabetes.		Recessive trait of the gene of the mother usually leads to genetic disorder or the biological parents contain any genetic abnormalities. Eg, Sickle cell anemia.
7.	Symptomatic response.	Congenital disorder is mostly symptomatic. Eg, Clubfoot.		Genetic disorders are asymptomatic. Eg, Sickle cell anemia.
8.	Diagnostic Evaluation.	Congenital disorder can be easily identified during pregnancy period by – USG, congenital anomaly scan, blood test, amniocentesis, choriocentesis, etc.		Genetic disorders cannot be easily detected except certain conditions like Down’s syndrome, can be identified through triple test.
9.	Manifestation.	Usually, during pregnancy period, anomalies are identified and mostly they are suggested for termination of pregnancy (neural tube defects) or after delivery, they undergo surgical treatment (congenital heart disease).		After delivery only, genetic disorders can be identified and undergo treatment based on the disease condition.
10.	Survival Rate.	Minor congenital disorders can be treated immediately, but major congenital disorders cannot be treated easily. Usually, immediately after birth the baby will not be survived.		Genetic disorders can be treated. Survival rate is high compared to congenital disorder.