congenital abnormalities

congenital abnormalities

Kaeja Hewitt #14

WHAT ARE CONGENITAL ABNORMALITIES?

According to Boston Children’s Hospital (n.d) congenital abnormalities are also referred to as birth defects or congenital anomalies. Birth defects are health problems or a physical abnormality which can be mild, severe or life-threatening

TYPES OF CONGENITAL ABNORMALITIES

1. Gastrointestinal Abnormalities

Gastrointestinal abnormalities affect the gastrointestinal (GI) tract from the mouth to the anus. The most common gastrointestinal abnormality is esophageal atresia which is an underdevelopment in the esophagus. Gastroschisis may be seen as a rare abnormality, affects the abdominal wall with the intestine outside of the baby’s body

TYPES OF CONGENITAL ABNORMALITIES

1. Gastrointestinal Abnormalities cont'd

TYPES OF CONGENITAL ABNORMALITIES

2. Respiratory Abnormalities

Any malformation of the respiratory tract or accessory respiratory muscles which alters the respiratory process are considered respiratory abnormalities. The most common one is congenital pulmonary airway malformations (CPAM) which is a noncancerous cystic mass of abnormal lung tissue that does not function as lung tissue.

TYPES OF CONGENITAL ABNORMALITIES

3. Cardiovascular Abnormalities

According to the American Heart Association congenital heart defects are structural complications resulting from the abnormal formation of the heart and major blood vessels.

TYPES OF CONGENITAL ABNORMALITIES

4. Central Nervous System Abnormalities

Congenital abnormalities of the CNS are birth defects of the physical structure of the brain or spinal cord that occurs during fetal intrauterine growth. The most common one is Spina Bifida, which abnormality in the spine

TYPES OF CONGENITAL ABNORMALITIES

5. Musculoskeletal Abnormalities

Congenital musculoskeletal defects is when certain bones, muscles, or joints don’t develop properly and occurs when the baby is growing in the mother’s womb. The most common one is dysplasia of the hip.

TYPES OF CONGENITAL ABNORMALITIES

5. Musculoskeletal Abnormalities cont'd

TYPES OF CONGENITAL ABNORMALITIES

6. Abnormalities of the skin

Congenital skin conditions are abnormalities of the skin that are present on a baby at birth. The most common type is port-wine stain is a permanent birthmark present from birth which usually starts out pinkish or reddish then turns darker as the child ages.

TYPES OF CONGENITAL ABNORMALITIES

7. Genitourinary Abnormalities

Genitourinary Abnormalities are birth defects and inherited conditions that affect the urinary tract or the genital tract. Cryptorchidism is the most common it is an undescended testicle that hasn't moved into its proper position in the sac of skin hanging below the penis.

TYPES OF CONGENITAL ABNORMALITIES

8. Chromosomal Abnormalities

A chromosomal abnormality is a change to a child's genetic material or DNA, which alters the baby's development before birth. This can include extra, missing or irregular chromosomes. The most common one is Down Syndrome also referred to as trisomy 21 is a condition in which a person has an extra chromosome which determines how an individual’s body forms and functions as it grows.

EMBRYOPATHIES

Embryopathies are congenital abnormalities that develop through the embryonic period. During this period the embryo is most at risk.

Embryopathies

Chemical substances

Some chemical substances may lead to abnormalities of the developing embryo. Diethylstilboestrol is a teratogenic substance that causes anomalies of the vagina and the uterus in female embryos. An example is vaginal adenosis.

Maternal diabetes

. Maternal diabetes is one of the conditions that leads to a disorder of embryonic and fetal development. Diabetes that is not controlled well in the embryonic period with constant hyperglycemia and an associated ketosis may increase the possibility for congenital abnormalities by two or three times. An example is macrosomia.

references

Embryology, (n.d.). Embryopathies. Retrieved from: https://www.embryology.ch/anglais/iperiodembry/patholperiod01.html

Children’s Health (n.d). Pediatric chromosomal abnormalities. Retrieved from: https://www.childrens.com/specialties-services/conditions/chromosomal-anomalies

Healthy Children, (November 21, 2015). Congenital Abnormalities. Retrieved from: https://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Pages/Congenital-Abnormalities.aspx

Wolsdorf, J., (March 20, 2019). Congenital abnormalities of the central nervous system (CNS). Retrieved from: https://www.nicklauschildrens.org/conditions/congenital-abnormalities-central-nervous-system

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