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Results 1 - 10 of 50 for Congenital malformation syndrome
  1. McKusick-Kaufman syndrome 
    ... condition. HMCS Hydrometrocolpos syndrome Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation Hydrometrocolpos-postaxial polydactyly syndrome Kaufman-McKusick syndrome MKS Genetic Testing Registry: McKusick- ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  2. Parkes Weber syndrome 
    Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, ...
    https://medlineplus.gov/genetics/condition/parkes-weber-syndrome - Genetics
  3. Down syndrome 
    ... 12987-X. Citation on PubMed Shapiro BL. Down syndrome and associated congenital malformations. J Neural Transm Suppl. 2003;(67):207-14. doi: 10.1007/978-3-7091-6721-2_18. Citation on PubMed Sherman SL, ... SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13( ...
    https://medlineplus.gov/genetics/condition/down-syndrome - Genetics
  4. 17q12 deletion syndrome 
    17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  5. PIK3CA gene 
    ... include hemimegalencephaly; fibroadipose hyperplasia; and a condition called congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal or spinal abnormalities (CLOVES) syndrome. Hemimegalencephaly is characterized by enlargement of one side ...
    https://medlineplus.gov/genetics/gene/pik3ca - Genetics
  6. Congenital diaphragmatic hernia 
    ... means that affected individuals have no other major malformations.More than 80 percent of individuals with congenital diaphragmatic hernia have no known genetic syndrome or chromosomal abnormality. In these cases, the cause ...
    https://medlineplus.gov/.../congenital-diaphragmatic-hernia - Genetics
  7. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 
    ... 2002.113680. Citation on PubMed Porter FD. Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr Opin Pediatr. 2003 Dec;15(6):607-13. doi: 10.1097/00008480-200312000-00011. Citation on PubMed
    https://medlineplus.gov/...hthyosiform-erythroderma-and-limb-defects - Genetics
  8. Trisomy 18 
    ... Gibson JB, Cleves MA, Tilford JM, Aitken ME. Congenital malformations among ... chromosome 18 in Edwards syndrome. Ann Genet. 1996;39(2):110-2. Citation ...
    https://medlineplus.gov/genetics/condition/trisomy-18 - Genetics
  9. FREM1 gene 
    ... This Health Condition MedlinePlus Genetics provides ... malformations syndrome, sometimes called BNAR. These mutations change single protein ...
    https://medlineplus.gov/genetics/gene/frem1 - Genetics
  10. Klippel-Feil syndrome 
    Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral ...
    https://medlineplus.gov/genetics/condition/klippel-feil-syndrome - Genetics
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