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Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly that is recognizable at birth, and which is significant enough to be considered a problem.
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.
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.
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.
Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
Viable inbred offspring are also likely to be inflicted with physical deformities and genetically inherited diseases. [69] Studies have confirmed an increase in several genetic disorders due to inbreeding such as blindness, hearing loss, neonatal diabetes, limb malformations, disorders of sex development, schizophrenia and several others.
About 3% of newborns have a "major physical anomaly", meaning a physical anomaly that has cosmetic or functional significance. [21] Developmental defects manifest in approximately 3% to 5% of newborns in the United States, between 2% to 3% of which are teratogen-induced. [22] Congenital disorders are responsible for 20% of infant deaths. [23]
A physical disability is a limitation on a person's physical functioning, mobility, dexterity or stamina. [1] Other physical disabilities include impairments which limit other facets of daily living , such as respiratory disorders , blindness , epilepsy [ 2 ] and sleep disorders .