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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. There are over 6,000 known genetic disorders in humans.
There are many instances of mythological characters showing signs of a deformity.. Descriptions of mermaids may be related to the symptoms of sirenomelia.; The Irish mythology includes the Fomorians, who are almost without exception described as being deformed, possessing only one of what most have two (eyes, arms, legs, etc.) or having larger than normal limbs.
A congenital physical anomaly is an abnormality of the structure of a body part. It may or may not be perceived as a problem condition. It may or may not be perceived as a problem condition. Many, if not most, people have one or more minor physical anomalies if examined carefully.
Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue.
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Opitz G/BBB syndrome, also known as Opitz syndrome, G syndrome or BBB syndrome, is a rare genetic disorder that will affect physical structures along the midline of the body. [1] The letters G and BBB represent the last names of the families that were first diagnosed with the disorder, while Opitz is the last name of the doctor that first ...
The oldest known case of NS, described in 1883 by Kobylinski Jacqueline Noonan began practicing as a pediatric cardiologist in 1959 at the University of Iowa when she noticed that children with a rare type of heart defect, valvular pulmonary stenosis , often had a characteristic physical appearance, with short stature , webbed neck , wide ...
Cranial sutures. A defining characteristic of Crouzon syndrome is craniosynostosis, which results in an abnormal head shape.This is present in combinations of: frontal bossing, trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the coronal suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (unilateral premature closure of lambdoid and coronal sutures ...