Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers and the classic features of Pierre Robin sequence. Affected individuals have an extra bone at the base of the index that causes the index fingers to be locked in a bent position (clinodactyly). Pierre Robin sequence refers to abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin sequence is characterized by an unusually small jaw (micrognathia), downward displacement or retraction of the tongue (glossoptosis), and incomplete closure of the roof of the mouth (cleft palate). A variety of additional physical findings can also be present. The specific symptoms can vary from one person to another. Alterations (mutations) in the TGDS gene have been identified in individuals with Catel-Manzke syndrome.Introduction
Catel-Manzke syndrome was first described in the medical literature in 1961 by Dr. Catel and later further evaluated by Dr. Manzke in 1966. The disorder was originally referred to as a palatodigital syndrome, but because cleft palate does not always occur, Dr. Manzke suggested replacing palatodigital syndrome with micrognathia-digital syndrome.
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., Pierre Robin syndrome, congenital heart defects, etc.].)
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