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Results 41 - 50 of 104 for Congenital heart anomalies
  1. Ellis-van Creveld syndrome 
    ... LA, Moller JH. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr ... Collins RT 2nd. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr ...
    https://medlineplus.gov/.../condition/ellis-van-creveld-syndrome - Genetics
  2. Microphthalmia with linear skin defects syndrome 
    ... Genetic Testing Registry: Linear skin defects with multiple congenital anomalies 1 Microphthalmia with linear skin defects syndrome National ... Rare Disorders (NORD) LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1 PubMed Morleo M, Franco B. Microphthalmia ...
    https://medlineplus.gov/...thalmia-with-linear-skin-defects-syndrome - Genetics
  3. Klippel-Feil syndrome 
    ... problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. ... Central Klimo P Jr, Rao G, Brockmeyer D. Congenital anomalies of the cervical spine. Neurosurg Clin N Am. ...
    https://medlineplus.gov/genetics/condition/klippel-feil-syndrome - Genetics
  4. Wolff-Parkinson-White syndrome 
    ... development of Wolff-Parkinson-White syndrome and related heart abnormalities. Research suggests that these variants alter the activity ... 2006.00399.x. Citation on PubMed Pediatric and Congenital Electrophysiology Society (PACES); Heart Rhythm Society (HRS); American College of Cardiology Foundation ( ...
    https://medlineplus.gov/.../condition/wolff-parkinson-white-syndrome - Genetics
  5. Adams-Oliver syndrome 
    ... Notch1 signaling, which may underlie blood vessel and heart abnormalities in some people with Adams-Oliver syndrome. Researchers ... Aplasia cutis congenita with terminal transverse limb defects Congenital scalp defects with distal limb reduction anomalies ... Genetic Testing Registry: Adams-Oliver syndrome Genetic Testing ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  6. Myhre syndrome 
    ... of the heart that are present at birth (congenital heart defects). Fibrosis in the heart and blood vessels ( ... pericarditis), and rarely, restrictive cardiomyopathy, in which the heart muscle is stiff and cannot ... of the lungs and airways (respiratory tract) in ...
    https://medlineplus.gov/genetics/condition/myhre-syndrome - Genetics
  7. Early-onset myopathy with fatal cardiomyopathy 
    ... and swelling of the legs and feet. The heart abnormalities associated with EOMFC usually become apparent in childhood, after the skeletal muscle abnormalities. The heart disease worsens quickly, and it often causes heart ...
    https://medlineplus.gov/...-onset-myopathy-with-fatal-cardiomyopathy - Genetics
  8. Mowat-Wilson syndrome 
    ... without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  9. Primary ciliary dyskinesia 
    ... Morillas HN, Noone PG, Zariwala MA, Knowles MR. Congenital heart disease and other heterotaxic defects in a large ...
    https://medlineplus.gov/.../condition/primary-ciliary-dyskinesia - Genetics
  10. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. Am J ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
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