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Results 1 - 10 of 30 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. 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
  4. 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
  5. 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
  6. Esophageal atresia/tracheoesophageal fistula 
    ... atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at ...
    https://medlineplus.gov/...phageal-atresia-tracheoesophageal-fistula - Genetics
  7. Parkes Weber syndrome 
    ... how these changes lead to the specific vascular abnormalities and limb overgrowth seen in people with Parkes Weber syndrome. ...
    https://medlineplus.gov/genetics/condition/parkes-weber-syndrome - Genetics
  8. LAMA2-related muscular dystrophy 
    ... M, Vissing J. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Muscle Nerve. 2015 Oct;52( ...
    https://medlineplus.gov/.../lama2-related-muscular-dystrophy - Genetics
  9. Spinal muscular atrophy with lower extremity predominance 
    ... with SMA-LED also have weakness in upper limb muscles.Joint deformities (contractures) in the hips, knees, feet, and ankles ...
    https://medlineplus.gov/...atrophy-with-lower-extremity-predominance - Genetics
  10. McKusick-Kaufman syndrome 
    ... three features: extra fingers and/or toes (polydactyly), congenital heart defects, and genital abnormalities. The most common genital abnormality is hydrometrocolpos, an ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
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