multiple malformation syndrome

multiple malformation syndrome

A general term for any of a group of disorders defined by developmental anomalies of two or more organ systems, typically linked to chromosomal damage, teratogens and environmental influences­. Examples include Cornelia de Lange syndrome, Prader-Willi syndrome, Rubinstein-Taybi syndrome and Williams’ syndrome.

multiple malformation syndrome

Any of the developmental anomalies affecting two or more systems in the fetus. The anomalies may be caused by chromosomal and genetic abnormalities or by teratogens, including certain drugs and chemicals. In determining causes, it is important to obtain a complete family history and the history of exposure to known teratogens and infectious diseases.
See: amniotic band disruption sequence syndrome
References in periodicals archive ?
Rarely, these pathologies are seen as part of a multiple malformation syndrome such as VACTERL (vertebral, anorectal, cardiac, tracheo-oesophageal fistula, oesophageal atresia, renal and limb defects).
This disorder commonly occurs as one feature in a multiple malformation syndrome such as the Stickler syndrome.
Bernstein (47,48) acknowledged, however, that not all dysplastic kidneys are associated with obstruction because the many familial multiple malformation syndromes argue for a genetic etiology.
The diverse entities characterized by the metanephric dysgenesis and LUT abnormalities of CAKUT are clustered together into the second category that accommodates their occurrence in sporadic, syndromic, and multiple malformation syndromes, while allowing for combinations of renal and LUT defects that can affect the same kidney.
Evidence for this heterogeneity is suggested by the occasional occurrence of this complex in chromosomal and other multiple malformation syndromes.

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