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36 Possible Causes for Atrial Septal Defect, Thenar Eminence Hypoplasia

  • Holt Oram Syndrome

    In the first fetus, the existence of Holt-Oram syndrome was suspected at 22 weeks of gestation; a ventricular septal defect, an atrial septal defect, and a minor skeletal[ncbi.nlm.nih.gov] eminence, clinodactyly, or hypoplasia of the thumb 2 - Present arms and forearms, with one or more bones missing 3 - Phocomelia.[aeronline.org] eminence, clinodactyly or hypoplasia of the thumb 2 Triphalangeal or aplastic thumbs, radial/ulnar hypoplasia 3 Arms and forearms present but with bone(s) missing 4 Phocomelia[gwumc.edu]

  • Tel Hashomer Camptodactyly Syndrome

    In addition to the usual findings, the patient had bilateral inguinal hernia and atrial septal defect, not previously described as component manifestations of the syndrome[ncbi.nlm.nih.gov] She had facial asymmetry, ocular hypertelorism, small mouth, poor muscular development, poor lower leg muscle development, and hypoplasia of the thenar and hypothenar eminences[cags.org.ae] Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease.[wwww.unboundmedicine.com]

  • Duane Anomaly

    A sister of the proposita had hemifacial microsomia, cervical abnormalities, and hypoplasia of the thenar eminence. Four relatives had hypoplasia of the thenar eminence.[ncbi.nlm.nih.gov] septal defect.[doi.org] defects, atrial septal defects, and tetralogy of Fallot Cardiac conduction defects (less common than in TBX5 -related HOS) Molecular Genetic Testing Gene.[ncbi.nlm.nih.gov]

  • Genee-Wiedemann Syndrome

    Aplastic clavicle Astigmatism Small thenar eminence Limited wrist movement Limited interphalangeal movement Hypoplasia of deltoid muscle Pectoralis major hypoplasia Abnormality[mendelian.co] […] primum atrial septal defect), lung disease from chronic infection, single umbilical artery, absence of the hemidiaphragm, hypoplasia of the femora, ossification defects of[en.wikipedia.org] […] primum atrial septal defect ), lung disease from chronic infection , single umbilical artery , absence of the hemidiaphragm, hypoplasia of the femora , ossification defects[ipfs.io]

  • Acrorenal Mandibular Syndrome

    eminence Optic disc hypoplasia Respiratory distress Duane anomaly Ureteral atresia Aplasia of the vagina Abnormality of upper lip Crossed fused renal ectopia Hemifacial hypoplasia[mendelian.co] Familial, 9; ATFB9 OMIM:108800 Atrial Septal Defect 1; ASD1 OMIM:607941 Atrial Septal Defect 2; ASD2 OMIM:614089 Atrial Septal Defect 3; ASD3 OMIM:611363 Atrial Septal Defect[informatics.jax.org] septal defect Ventricular septal defect Patent foramen ovale Patent ductus arteriosus Aortic coartation Pulmonary stenosis Cyanotic Tetralogy More information (1) TONSILS[healthdocbox.com]

  • Acrootoocular Syndrome

    Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[orpha.net] […] cardiomyopathy with heart block [ ] Atrial septal defect [ ] Atrial septal defect - atrioventricular conduction defects [ ] Atrial septal defect, coronary sinus type [ ][wikicure.wikia.com] Juberg Marsidi syndrome Kapur Toriello syndrome Koolen De Vries syndrome Lentiglobus Lethal faciocardiomelic dysplasia Lymphedema of lower extremity Lymphedema, atrial septal[icdlist.com]

  • Congenital Upper Palpebral Retraction

    septal defect), and cow's milk allergy.[oandplibrary.org] The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org] The cardiac lesion, may be an atrial septal defect (common), ventricular septal defect, patent ductus arteriosus or mitral-valve prolapse, There is no correlation between[oandplibrary.org]

  • Autosomal Dominant Mental Retardation Type 21

    The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org] atrial septal defects, cleft palate, and anal atresia might be surgically corrected.[disorders.eyes.arizona.edu] septal defect, tetralogy of Fallot), gastrointestinal features (motility problems, celiac disease), genitourinary abnormalities (kidney agenesis, renal cysts, hydronephrosis[content.sciendo.com]

  • Acro-Pectoral Syndrome

    eminence, clinodactyly, or hypoplasia of the thumb 3 - Present arms and forearms, with one or more bones missing 4 – Phocomelia Cardiac defects A scoring system to assess[emedicine.medscape.com] Clin Genet 1991;40(3):225–228 PubMed Google Scholar Matsui A, Nakagawa M, Okuno M: Association of atrial septal defect with Poland–Moebius syndrome: vascular disruption can[link.springer.com] Atrial septal defect (ASD), the most common heart defect in HOS, causes no symptoms in the vast majority of affected individuals.[emedicine.medscape.com]

  • Oculootoradial Syndrome

    In Holt-Oram syndrome (OMIM 142900), a developmental disorder caused by mutations in the TBX5 gene, the characteristic findings are thumb anomaly and atrial septal defect.[rrnursingschool.biz] 0008953 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Small thenar eminence 0001245 Showing of 31 Last updated: 6/1/2019 Making a diagnosis for a genetic or[rarediseases.info.nih.gov] […] cardiomyopathy with heart block Atrial septal defect - atrioventricular conduction defects Atrial septal defect, ostium primum type Atrial septal defect, ostium secundum[csbg.cnb.csic.es]

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