The defects or congenital anomalies refer to “birth defects” and tend to be non – functional or structural alterations, visible or which are present from birth.
In most cases they are detected during the first days after birth, mostly prenatally sometimes. Depending on the severity and frequency, it has a great impact on maternal and child public health. For some of them there is an important potential for primary prevention.
Its presence may be during embryonic development , as a consequence of a hereditary defect.
The exposures to chemicals present in the environment contribute to harm human reproductive function in various ways. It is important to note that male and female reproductive systems tend to be sensitive when exposed to numerous physical and chemical agents.
The wide range of adverse reproductive outcomes includes spontaneous abortions, reduced fertility, malformations, low birth weight, and developmental deficiency.
Examples of congenital diseases
- Alport syndrome : the essential feature of this genetically transmitted syndrome that tends to manifest itself in early adolescence. Renal degeneration is accompanied by progressive sensorineural hearing loss that increases as renal dysfunction worsens. This disease is more common in males.
- Down syndrome: it is characterized by being a serious genetic disorder that responds to mental retardation as well as certain physical deformities.
- Mondini aplasia : it is a hereditary malformation that is represented as a flattened cochlea in which only the basal turn has developed.
- Helweg-larsen syndrome: it is a hereditary disorder that mixes hypofunction of the sweat glands with progressive hearing loss. It has only one external manifestation and this is a thickening of the skin on the soles of the feet and the palms of the hands.
- Usher syndrome: it is an inherited disorder that involves a hearing disorder that can be stable and moderate, profound and progressive, and a vision disorder called retinitis pigmentosa. In some cases they also have various problems with balance.
- Treacher Collins syndrome: it is characterized by the presence of craniofacial anomalies resulting from incomplete or abnormal development of the zygomatic arches, supraorbital edges. Its fundamental clinical manifestations are summarized in a characteristic facial appearance with formation of antimongoloid folds, maldevelopment of zygomatic arches and congenital ocular fissure.
- Goldenhard syndrome: it is a more common inherited disease in males and is reflected at birth.
- Cleft lip: it is a congenital defect of the present in the mouth. The cleft palate is characterized by being an opening in the upper palate. Cleft palate or cleft lip can present simultaneously and also separately.
- Alstrom syndrome: its main features are diabetes mellitus, retinitis pigmentosa, progressive hearing loss and obesity. in this syndrome it is very likely that the hearing loss has a neural origin because it is characterized by atrophy of the optic nerve.
- Waardenburg syndrome: it is determined by deafness and pigmentary disorders in the hair, skin and eyes.
Characteristics of congenital malformations
- Chromosomal abnormalities: we understand by chromosomes as the structure that is responsible for transporting the genetic material that is generally inherited from generation to generation. This allows to determine the physical form of the baby in general. When one of these chromosomes is missing or they are born without the 46 or when one is duplicated, it is very likely that the child will behave or look different from the others.
- Single gene abnormalities: in most of these cases the chromosomes are complete, however, one or more of them comes with a defect.
- Conditions during the baby’s gestation period that may affect them: among them we can find some infections that the mother may suffer, chronic maternal conditions such as hypertension, the consumption of alcohol and harmful chemical substances, the consumption of raw or bad food manipulated and the intake of some medications that are prohibited during pregnancy.
- Mix of genetic and environmental problems: congenital malformations can occur if, apart from the existence of a genetic tendency, it affects the environment and the degree of contamination to which the mother is exposed.
- Causes of an unknown nature: many of the malformations today, despite the medical evolution that exists in the world, remain unknown.