Malpuech facial clefting syndrome
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Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome,[1] is a rare congenital syndrome. It is characterized by facial clefting (any type of cleft in the bones and tissues of the face, including a cleft lip and palate), a caudal appendage (a "human tail"),[2][3] growth deficiency, intellectual and developmental disability, and abnormalities of the renal system (kidneys) and the male genitalia.[4] Abnormalities of the heart, and other skeletal malformations may also be present.[5] The syndrome was initially described by Georges Malpuech and associates in 1983.[6] It is thought to be genetically related to Juberg-Hayward syndrome. Malpuech syndrome has also been considered as part of a spectrum of congenital genetic disorders associated with similar facial, urogenital and skeletal anomalies. Termed "3MC syndrome", this proposed spectrum includes Malpuech, Michels and Mingarelli-Carnevale (OSA) syndromes.[7][8] Mutations in the COLLEC11 and MASP1 genes are believed to be a cause of these syndromes.[9] The incidence of Malpuech syndrome is unknown. The pattern of inheritance is autosomal recessive, which means a defective (mutated) gene associated with the syndrome is located on an autosome, and the syndrome occurs when two copies of this defective gene are inherited.[10]