Global InformationMalpuech facial clefting syndrome information
| Malpuech facial clefting syndrome | |
|---|---|
| Specialty | Medical genetics  |
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]
- ^ Online Mendelian Inheritance in Man (OMIM): Malpuech facial clefting syndrome - 248340
- ^ Cite error: The named reference
htailwas invoked but never defined (see the help page). - ^ Guion-Almeida, M. L. (Jul 1995). "Apparent Malpuech syndrome: Report on three Brazilian patients with additional signs". American Journal of Medical Genetics. 58 (1): 13–17. doi:10.1002/ajmg.1320580104. PMID 7573149.
- ^ Kerstjens-Frederikse, W. S.; Brunner, H. G.; Van Dael, C. M.; Van Essen, A. J. (May 2005). "Malpuech syndrome: Three patients and a review". American Journal of Medical Genetics Part A. 134 (4): 450–453. doi:10.1002/ajmg.a.30662. PMID 15793834. S2CID 11903742.
- ^ Chinen, Y.; Naritomi, K. (Dec 1995). "Malpuech facial clefting syndrome in a Japanese boy with cardiac defects". The Japanese Journal of Human Genetics. 40 (4): 335–338. doi:10.1007/BF01900601. PMID 8851768.
- ^ Malpuech, G.; Demeocq, F.; Palcoux, J. B.; Vanlieferinghen, P.; Opitz, J. M. (Dec 1983). "A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies". American Journal of Medical Genetics. 16 (4): 475–480. doi:10.1002/ajmg.1320160405. PMID 6660246.
- ^ Cite error: The named reference
mjhwas invoked but never defined (see the help page). - ^ Titomanlio, L.; Bennaceur, S.; Bremond-Gignac, D.; Baumann, C.; Dupuy, O.; Verloes, A. (Sep 2005). "Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)?". American Journal of Medical Genetics Part A. 137A (3): 332–335. doi:10.1002/ajmg.a.30878. PMID 16096999.
- ^ Rooryck, C.; Diaz-Font, A.; Osborn, D. P.; Chabchoub, E.; Hernandez-Hernandez, V.; Shamseldin, H.; Kenny, J.; Waters, A.; Jenkins, D.; Kaissi, A. A.; Leal, G. F.; Dallapiccola, B.; Carnevale, F.; Bitner-Glindzicz, M.; Lees, M.; Hennekam, R.; Stanier, P.; Burns, A. J.; Peeters, H.; Alkuraya, F. S.; Beales, P. L. (Mar 2011). "Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome". Nature Genetics. 43 (3): 197–203. doi:10.1038/ng.757. PMC 3045628. PMID 21258343.
- ^ Turnbull, C.; Lees, M.; Chitty, L. S. (Dec 2006). "Prenatal sonographic diagnosis of Malpuech syndrome". Prenatal Diagnosis. 26 (12): 1121–1123. doi:10.1002/pd.1564. PMID 17019743. S2CID 37837710.