Multiple pterygium syndrome lethal type
Other Names for this Disease
- Lethal multiple pterygium syndrome
- Pterygium syndrome multiple lethal type
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contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, and bone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint
Last updated: 7/21/2011
- Multiple pterygium syndrome, lethal type. Orphanet. 2006; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10308&Disease_Disease_Search_diseaseGroup=Multiple-pterygium-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Lethal-multiple-pterygium-syndrome&tit. Accessed 7/21/2011.
- Multiple pterygium syndrome, lethal type. Online Mendelian Inheritance of Man (OMIM). April 2008; http://www.ncbi.nlm.nih.gov/omim/253290. Accessed 7/21/2011.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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