Genetic disorders are rare conditions that exist due to abnormalities in the genome. These conditions generally prevail by the time of birth only. These are very rare conditions that can be seen in one out thousands of people. These disorders may be hereditary which has been passed on to parents or grandparents. Other than hereditary, defect in DNA and mismatch pairing of chromosomes may also create these disorders. Defects can be minor to major from the unusual number of limbs to feet turned backward or unnecessary growth on the head.
There are enormous types of genetic disorders, let’s discuss few of them:
It is also known as craniofacial duplication. It is a very rare type of congenital disorder wherein some part of the face or even entire face is duplicated. It resembles conjoined twinning by the way it appears, it happens due to improper fusion or insufficient growth of embryos. SHH is the form of the gene which is responsible for facial patterning. Excess of SHH and its corresponding gene lead to such abnormality. The brain may also get affected by such disorder may remain underdeveloped due to insufficient growth of brain tissues.
The absence of significant portion of brain, skull or even scalp forms Anencephaly. It happens because of neural tube defect when neural tube fails to shut down, which usually happens between 23rd to 26th days of conception. Closure of neural tube helps in forming brain, skull, spinal cord and backbone. Usually, babies born under this condition is without the front portion of the cerebrum. Rest of the brain usually is not covered by bone.
Feet facing backward:
You must have heard that generally, ghosts have feets facing backward, but it is not true it is genetic disorder in unborn babies due to which their feet face backward direction. This is generally because of ill placement of baby’s feet in an embryo. However, these abnormality doesn’t affect your development and it responds well to physiotherapy and feet may return to their original position.
Cutaneous horn is like hard conical abject present on the body part of babies at the time of birth. They are made of compact keratin. They resemble a lot of the horn of animals ahead. It treatment totally depends on the type of lesion at the base of the skin. Generally, the biopsy is performed to check the lesion. This is the very rare form of abnormality more over its prevalence doesn’t affect the functioning of your body nor physically nor mentally.
This is the severe and very strange type of disorder. It mainly affects the skin of a baby. Babies born with this condition have very hard and thick skin covering all of the body or some parts of it. Deep cracks in diamond shaped plates covered with blood are also visible on the body of an infant. This can create the problem in breathing as the presence of such skin may restrict movement of the chest. However, these hard skin plates may fall after some time. Premature delivery, Infection to mother or dehydration can be some effects of this abnormality.