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Diseases » Patau syndrome » Glossary

Glossary for Patau syndrome

Anophthalmos: A rare defect where one or both eyes are absent. The amount of eye socket tissue affected is variable.
Autosomal chromosome conditions: Any conditions that are related to any non-sex-determining chromosome
Chromosome 13 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years.
Chromosome conditions: Various genetic conditions where a chromosome is partially or totally misplaced.
Cleft palate: Birth defect of lip and mouth.
Dextrocardia: A rare anomaly where the heart is located on the right side of the chest instead of the normal left side of the chest. The condition is generally asymptomatic but is often associated with other abnormalities such as inverted location of other abdominal organs.
Holoprosencephaly: A rare disorder where abnormalities of the fetal forebrain development lead to various birth defects.
Infant Death: The death of an infant
Intrauterine Growth Retardation: Slowly growing fetus in the womb during pregnancy
Malnutrition: A malnutrition state that is produced by severe protein deficiency
Mental retardation - dysmorphism - hypogonadism - diabetes: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
Microphthalmia: Abnormally small eyes.
Omphalocele - exstrophy - imperforate anus: A very rare syndrome characterized mainly by the absence of an anal opening, spine defects and omphalocele (abdominal organ protruding from the belly button).
Patent ductus arteriosus: Patent ductus arteriosus (PDA) is a congenital heart defect wherein a child's ductus arteriosus fails to close after birth.
Polydactyly: A rare deformity where the hands and/or feet have extra digits.
Trisomy conditions: Any condition that is characterised by the occurrence of 3 of the same chromosome in an individuals genetic sequence