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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.
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.
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.
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.
Around the world, the most common cause of congenital iodine deficiency syndrome (endemic cretinism) [1] is dietary iodine deficiency. Iodine is an essential trace element, necessary for the synthesis of thyroid hormones. Iodine deficiency is the most common preventable cause of neonatal and childhood brain damage worldwide. [11]
According to the Centers for Disease Control and Prevention (CDC), most birth defects are believed to be caused by a complex mix of factors including genetics, environment, and behaviors, [13] though many birth defects have no known cause. An example of a birth defect is cleft palate, which occurs during the fourth through seventh weeks of ...
Many organ systems are affected by triploidy, but the central nervous system and skeleton are the most severely affected: . Common central nervous system defects seen in triploidy include holoprosencephaly, hydrocephalus (increased amount of cerebrospinal fluid within the brain), ventriculomegaly, Arnold–Chiari malformation, agenesis of the corpus callosum and neural tube defects.
Tetra-amelia syndrome is characterized by the complete absence of all four limbs. The syndrome causes severe malformations of various parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. [1] In many cases, the lungs are underdeveloped, which makes breathing difficult or impossible.