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Inbreeding coefficients of various populations in Europe and Asia. Offspring of biologically related persons are subject to the possible effects of inbreeding, such as congenital birth defects. The chances of such disorders are increased when the biological parents are more closely related.
Darwin's wife, Emma, was his first cousin, and he was concerned about the impact of inbreeding on his ten children, three of whom died at age ten or younger; three others had childless long-term marriages. [16] [17] [18] Humans do not seek to completely minimize inbreeding, but rather to maintain an optimal amount of inbreeding vs. outbreeding.
Multiple studies have established consanguinity as a high cause for birth defects and abnormalities. A risk of autosomal recessive disorders increases in offspring coming from consanguineous marriages due to the increased likelihood of receiving recessive genes from cognate parents. [2]
A birth defect [a] is an abnormal condition that is present at birth, regardless of its cause. [2] Birth defects may result in disabilities that may be physical, intellectual, or developmental. [2] The disabilities can range from mild to severe. [6]
Although the overall frequency of disease-causing alleles does not vary much between populations, the practice of consanguineous marriage (marriage between second cousins or closer relatives) has been common in some Jewish communities, which produces a small increase in the number of children with congenital defects. [1]
Diagnosis is often based on appearance at birth and confirmed by genetic testing. [5] Before birth, amniocentesis or ultrasound may support the diagnosis. [5] There is no cure for the condition. [8] Early in life, constant supportive care is typically required. [3] Treatments may include moisturizing cream, antibiotics, etretinate or retinoids.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Cyclopia (named after the Greek mythology characters cyclopes), also known as alobar holoprosencephaly, is the most extreme form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities.