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Examples of minor anomalies can include curvature of the fifth finger (clinodactyly), a third nipple, tiny indentations of the skin near the ears (preauricular pits), shortness of the fourth metacarpal or metatarsal bones, or dimples over the lower spine (sacral dimples). Some minor anomalies may be clues to more significant internal abnormalities.
A 1998 study found that 60% of its schizophrenic sample and 38% of their siblings had 6 or more MPAs (especially in the craniofacial area), while only 5% of the control group showed that many. [ 2 ] The most often cited MPA, high arched palate , is described in articles as a microform of a cleft palate . [ 3 ]
Chromosome 22 abnormalities; Cleft lip/palate; Cleidocranial dysostosis; Club foot; Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA)
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.
It can be treated by physical therapy, or by a combination of physical therapy and surgery. [1] One class of congenital limb deformities, limb reduction defects, occurs when one or more limbs are undersized or missing parts. The prevalence of these defects in the United States is approximately 1 in 1900 births. [2]
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 .
Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence , syndrome or association. [ 2 ]
Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed fingers on one side of the body. [3] [1] There may also be short ribs, less fat, and breast and nipple abnormalities on the same side of the body. [1]
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