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Results 1 - 10 of 47 for Congenital deformities of limbs
  1. CHILD syndrome 
    ... Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Congenital hemidysplasia with ichthyosiform nevus and limbs defects Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs Genetic Testing Registry: Child syndrome CHILD ...
    https://medlineplus.gov/genetics/condition/child-syndrome - Genetics
  2. Holt-Oram syndrome 
    ... PubMed Mori AD, Bruneau BG. TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr Opin Cardiol. 2004 May;19(3):211-5. doi: 10.1097/00001573-200405000-00004. Citation on PubMed
    https://medlineplus.gov/genetics/condition/holt-oram-syndrome - Genetics
  3. FKRP gene 
    ... This Health Condition MedlinePlus Genetics provides ... weakness, brain abnormalities, and intellectual disability but usually does not affect ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  4. DOK7 gene 
    ... signaling between nerve and muscle cells. These signaling abnormalities lead to ... hips, and limbs, known as limb-girdle muscle weakness. More About ...
    https://medlineplus.gov/genetics/gene/dok7 - Genetics
  5. Klippel-Feil syndrome 
    ... and Imaging Suite. Klippel-Feil syndrome and associated abnormalities: the ... Congenital limb deficiences associated with Klippel-Feil syndrome: a survey ...
    https://medlineplus.gov/genetics/condition/klippel-feil-syndrome - Genetics
  6. FKTN gene 
    ... This Health Condition MedlinePlus Genetics provides ... muscles. The eye and brain abnormalities seen in those with Walker-Warburg syndrome are ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
  7. Meige disease 
    ... abnormally, it causes swelling (lymphedema) in the lower limbs.Meige disease ... birth (congenital), although the swelling is not usually apparent until ...
    https://medlineplus.gov/genetics/condition/meige-disease - Genetics
  8. Adams-Oliver syndrome 
    ... skull AOS Aplasia cutis congenita with terminal transverse limb defects Congenital scalp defects with distal limb reduction anomalies Genetic Testing Registry: Adams-Oliver syndrome ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  9. LBR gene 
    ... Noort G, Waterham HR, Hall CM, Hennekam RC. Congenital abnormalities reported in Pelger-Huet homozygosity as compared to ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  10. NOTCH1 gene 
    ... of Notch1 function leads to the scalp and limb abnormalities characteristic of the condition. Researchers suggest these features ... Condition NOTCH1 gene mutations are involved in ... have one or more specific heart abnormalities that affect the flow of blood into, out ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
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