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Results 1 - 10 of 167 for Child syndrome
  1. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 
    ... limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of ... as often as the left side.People with CHILD syndrome have a skin condition characterized by large patches ...
    https://medlineplus.gov/...hthyosiform-erythroderma-and-limb-defects - Genetics
  2. Surfactant dysfunction 
    Surfactant dysfunction is a lung disorder that causes breathing problems. This condition results from abnormalities in the composition or function of surfactant, ...
    https://medlineplus.gov/genetics/condition/surfactant-dysfunction - Genetics
  3. NSDHL gene 
    ... congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome). Most of these mutations change single protein building ... cholesterol synthesis leads to the specific features of CHILD syndrome. More About This Health Condition H105E3 NSDHL_HUMAN ...
    https://medlineplus.gov/genetics/gene/nsdhl - Genetics
  4. MTR gene 
    ... variant also increases the risk of having a child with Down syndrome, which is a condition characterized by intellectual disability ... homocysteinemia are three risk factors for having a child with Down syndrome. Am J Med Genet A. 2003 Sep 1; ...
    https://medlineplus.gov/genetics/gene/mtr - Genetics
  5. Williams syndrome 
    ... their family. However, the risk of having a child with Williams syndrome is increased if a parent, who is unaffected, ... Bjornstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol. 2002 Apr;17(4):269-71. doi: ...
    https://medlineplus.gov/genetics/condition/williams-syndrome - Genetics
  6. Down syndrome 
    ... Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases as a woman gets older. Most cases of Down syndrome result from trisomy 21, which means each cell ...
    https://medlineplus.gov/genetics/condition/down-syndrome - Genetics
  7. Klinefelter syndrome 
    ... sperm cell with one Y chromosome, the resulting child will have Klinefelter syndrome. Similarly, if a sperm cell with both an ... cell with a single X chromosome, the resulting child will have Klinefelter syndrome.Mosaic Klinefelter syndrome (46,XY/47,XXY) is ...
    https://medlineplus.gov/genetics/condition/klinefelter-syndrome - Genetics
  8. Ring chromosome 20 syndrome 
    ... 20 being passed from a parent to a child. R(20) syndrome Ring 20 syndrome Ring chromosome 20 Ring chromosome ... H, Gokben S, Ozkinay F. Ring chromosome 20 syndrome with intractable epilepsy. Dev Med Child Neurol. 2005 May;47(5):343-6. doi: ...
    https://medlineplus.gov/.../condition/ring-chromosome-20-syndrome - Genetics
  9. Muenke syndrome 
    ... Tamburrini G, Caldarelli M, Di Rocco C. Muenke syndrome. Childs Nerv Syst. 2004 May;20(5):297-301. doi: 10.1007/s00381-003-0906-y. Epub 2004 Feb 10. Citation on PubMed ... and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21( ...
    https://medlineplus.gov/genetics/condition/muenke-syndrome - Genetics
  10. Horner syndrome 
    ... J. Agenesis of internal carotid artery in a child with ipsilateral Horner's syndrome. J Child Neurol. 2009 Jan;24(1):101-4. doi: 10.1177/0883073808321049. Citation on PubMed Jeffery AR, Ellis FJ, Repka MX, Buncic JR. Pediatric Horner syndrome. J AAPOS. 1998 Jun;2(3):159-67. ...
    https://medlineplus.gov/genetics/condition/horner-syndrome - Genetics
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