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Explain Birth Defects – Part 2

Deformations often occur in the third trimester and may be because of oligohydramnios.
• A disruption means breakdown of normal tissues.
• When multiple effects happen in a particular order, it is known as a sequence.
Once the order is not known, it is a syndrome.
• Genetic disorders or diseases are extremely congenital.
• These genetic disorders are often expressed or recognized later in life.

Genetic diseases may be separated into:
– single-gene defects
– multiple-gene disorders
– chromosomal defects
• Single-gene defects develop from abnormalities of both the copies of an autosomal gene.
• They can also develop due to only one of these two copies.
• Some conditions originate from deletions or abnormalities of some genes that are located contiguously over a chromosome.
• Chromosomal disorders arise due to the loss or duplication of bigger portions of a chromosome that containing hundreds of genes.
• Large chromosomal abnormalities always produce effects on many different areas of the body and organ systems.
• A congenital metabolic disease can be referred to as an inborn error of metabolism.
• A large number of them are single gene defects.
• They are usually inheritable.
• Many affect the structure of limbs however, many simply affect the function.

Other well defined genetic conditions may affect producing:
– Hormones
– Receptors
– Structural proteins
– Ion channels

What are the causes?

• Utilization of antibiotics at the time of conception, particularly sulfonamides and nitrofurantoin are connected with major birth defects.

Cellular division errors is usually because of:
– lack of nutrients
– accessibility to atomic lessons
– presence of toxins that impede normal growth.
• Division errors which occur at very beginning of the creation of a multicellular organism, could lead to large scale structural and functional differences in the organism’s final shape.
• For example, now it is understood that insufficient folic acid in the diet of a mother can cause cellular neural tube deformities that end in Schistorrhachis.
• External physical shocks or constrainment on account of development in a small space may lead to unintended deformation.
• This can lead to separation of cellular structures leading to an abnormal final shape or damaged structures.
• For multicellular organisms which grow in a womb, another developing organism like in twins, the physical interference can lead to both these cellular masses combining or joining as if they are whole.
• This is along with the combined cells.
• These cells try to develop into a whole which meet the intended growth patterns of both cell masses.
• The two cellular masses can contend with one another.
• They might either duplicate or merge into various structures.
• This ends in conditions such as conjoined twins.
• The resulting merged organism may die at birth.
• This is due to incompatibility to leave the life span-sustaining environment in the womb and try to sustain its biological processes independently.

Occurrence rate
• This frequency of occurrence of certain congenital malformations will depend on the sex of the child.
• One example is pyloric stenosis.
• This occurs more regularly in males.
• The congenital hip dislocation is four to five times prone to occur in females.

The Encyclopedia of Genetic Disorders and Birth Defects Birth Defects (Diseases and People) How to Raise a Healthy Child in Spite of Your Doctor

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