What Are the Different Types of Congenital Abnormalities?

Malformation is a pathological condition in which the shape, size, location, or structure of an organ or tissue is abnormal or defective. There are two causes for congenital and acquired. Congenital malformations can also be caused by genetic defects (chromosomal aberrations or gene mutations) or environmental factors (such as teratogenic biochemical causes such as viral infections, plants or drugs).

Malformation is a pathological condition in which the shape, size, location, or structure of an organ or tissue is abnormal or defective. There are two causes for congenital and acquired. Congenital malformations can also be caused by genetic defects (chromosomal aberrations or gene mutations) or environmental factors (such as teratogenic biochemical causes such as viral infections, plants or drugs).

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2019-11-29 14:11 Baby boy with two heads, three arms and four palms deformed

On the 23rd local time, an Indian woman gave birth to a malformed baby boy with two heads, three arms and four palms in a hospital. She was fainted on the spot. The baby boy's mother, Barbieta, had a routine ultrasound at 35 weeks of pregnancy, and the doctor told the couple that they were about to have a twin. The news excited them and looked forward to the two little lives that were coming. However, doctors have overlooked an important detail: The baby in Barbieta's belly is not a twin, but a conjoined baby. ... more

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Content from

Chinese name

deformity

Foreign name

malformation

Pinyin

j xíng

Concept

Some parts of the organism are not developing properly

Extended meaning

Generally refers to things that are not developing normally

Formation period

Early stages of embryo development

Distinction of malformations and preventive measures:

Malformation is a serious abnormality in some organs caused by defects in the structure and function of the human body during embryonic development. Malformations are distinguished from small and large deformities. Types of major congenital malformations are: brain malformations, congenital heart disease, renal malformations, esophageal occlusion, congenital pyloric stenosis, congenital megacolon, anal atresia, limb deformities, cleft lip and cleft palate. There are two major causes of malformations: genetic and environmental factors. Preventive measures: carry out genetic counseling and prenatal diagnosis; establish and implement eugenics; promote fertility at childbearing age; strengthen environmental protection and eliminate various adverse factors such as trauma, infection, physical and chemical factors, drugs, nutrition, environmental pollution, etc. Can reduce the occurrence of deformities in our population.

Congenital malformations:

Congenital malformation refers to a congenital disease that is caused by abnormal development of the embryo and is characterized by abnormal morphology and structure. It is a type of birth defect. Congenital malformations are caused by genetic factors, environmental factors, and interactions between the two. Mainly divided into the following types: disorders of whole embryo development; local malformations of embryos; local malformations of organs or organs; malformations of tissue differentiation; transitional malformations of development; malabsorption malformations; supernumerary or ectopic occurrence Sexual malformations; developmental retention malformations; repeated malformations; parasitic malformations. Statistics show that the incidence of congenital malformations is 8 times higher than tumors and 5 times higher than cardiovascular diseases. Among all congenital malformations, limb deformities account for 26%, neural tube defects account for 17%, genitourinary system deformities account for 14%, facial deformities account for 9%, digestive system deformities account for 8%, cardiovascular malformations account for 4%, and multiple malformations 22%. [1]

Types of malformations:

(A) brain malformations:

1. Anencephaly:

Severe congenital malformations of the brain, which are common in anencephaly malformations, account for about 1 of newborns, about 50% of neural tube defects, and females are 2 to 4 times as likely as males. Anencephaly is caused by the anterior neural foramen not closing, which causes abnormal development of the forebrain primordium and the cranial cap does not develop, which causes most of the fetal brain to be exposed outside the skull. Anencephaly fetuses mostly have miscarriages and cannot survive. A few full-term fetuses also die within hours. Early diagnosis of anencephaly is possible with ultrasound scans or determination of maternal serum alpha-fetoprotein (serum alpha-fetoprotein> 120 g / L). Mothers who have had children with cerebral deformity may have a neural tube defect recurrence rate as high as 10% in subsequent pregnancy, and therefore need to be closely monitored.

2. Giant brain abnormalities:

Megacephaly is an abnormal increase in the skull and brain. The brain weight can exceed 2500g, the hydrocephalus increases, and the cortex thickens, which can be accompanied by hydrocephalus. Manifest mental retardation.

(2) Congenital heart disease:

The malformed disease caused by abnormalities in the heart and blood vessels due to genetic and environmental factors during the fetal period is the most common heart disease in childhood. The diagnosis of congenital heart disease is mainly based on medical history, physical examination and auxiliary examination.

Congenital heart disease is also called "congenital cardiac vascular malformation". It is caused by abnormal development of large blood vessels in the fetus. It is often caused by viral infections such as rubella in early pregnancy, malnutrition, physical or chemical (including drug) factors, and genetic factors. Lesions can affect all layers of the heart and large blood vessels. According to hemodynamics combined with pathological anatomy and pathophysiology, it can be divided into three categories, namely left to right shunt, right to left shunt and no shunt. Divided into two categories according to the presence or absence of cyanosis symptoms, namely non-cyanogenic congenital heart disease and cyanotic congenital heart disease.

Malformations and disorders:

Anolfactory brain malformation syndrome:

Overview:

An olfactory brain malformation syndrome is also known as total encephalopathy; panproencephalopathy; monkey head malformation syndrome; pseudotrisomy D1 syndrome. First reported by a scholar. It is characterized by poor intellectual development and deformities of the head and face. The cause is unclear and may be related to genetic or environmental factors. Pathological findings showed no olfactory brain, lack of olfactory bulbs, frontal pole fusion, occasional corpus callosum hypoplasia and cerebellar defects, double crested palate, cleft palate, and heart and kidney deformities. Clinical manifestations: low birth weight, recurrent respiratory infections, with cyanosis and asphyxia. Microcephaly, low forehead, lack of forebrain development, small or no eyeballs, iris fissures, low ears. Cleft lip, palate, multiple finger (toe) deformity, finger (toe) fixed in flexion. Congenital heart disease and polycystic kidney disease, no spleen. Cryptorchidism in men, ovarian hypoplasia in women, etc. A chromosome examination should be performed, and 18P- or other chromosomal abnormalities can be confirmed. No treatment. The prognosis is poor, and most of them die in early infancy.