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14 Possible Causes for Pancytopenia, Ventricular Septal Defect, Wide Space Between the First and Second Toe

  • Down Syndrome

    CONCLUSION: More than one-third of children with DS have CHD with ventricular septal defect, which is the most common.[ncbi.nlm.nih.gov] Since the circulating blast count is often low in ML-DS and the predominant haematological picture may be of slowly progressive pancytopenia, a bone marrow aspirate is usually[doi.org] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org]

  • Seckel Syndrome

    The 12-yr-old female had pancytopenia, which is seen occasionally in patients with Seckel syndrome and is also a feature of Fanconi anemia, a well-recognized autosomal recessive[ncbi.nlm.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Symptoms include: intellectual disability (more than half of the patients have an IQ below 50) microcephaly sometimes pancytopenia (low blood counts) cryptorchidism low birth[en.wikipedia.org]

  • Dubowitz Syndrome

    septal defects, as well as patent ductus arteriosus).[symptoma.com] Neoplastic risk haematological malignancies and pancytopenia in 10%, childhood myelodysplasia in particular; lymphomas Inborn conditions appears to be normal or near to normal[atlasgeneticsoncology.org] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Ring Chromosome 10

    […] secundum and a small ventricular septal defect (VSD).[molecularcytogenetics.biomedcentral.com] […] clitoromegaly Cafe au lait spotMicrocephaly, weight and height below 3rd percentileMany dysplastic features, FDPMDD, hypotonic, atrophy of the brain, seizuresCardiac malformation, pancytopenia[edmcasereports.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Atelosteogenesis Type 2

    Defects Chapter 77 Ventricular Septal Defect Chapter 78 Atrioventricular Septal Defect Section Three Right Heart Defects Chapter 79 Tricuspid Atresia Chapter 80 Ebstein Anomaly[elsevier.com] […] vision, see Arts syndrome ataxia-deafness-optic atrophy, lethal, see Arts syndrome ataxia-hypogonadism-choroidal dystrophy syndrome, see Boucher-Neuhäuser syndrome ataxia-pancytopenia[mygenomics.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Familial Congenital Nasolacrimal Duct Obstruction

    (ventricular septal defect, patent ductus arteriosus).[nature.com] In addition to the dysmorphic features, the boy had hypoglycemia and pancytopenia.[genome.jp] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Cutis Laxa

    septal defect , Indian J Surg , 2005 , vol. 67 (pg. 43 - 4 ) 5 Autosomal recessive cutis laxa syndrome revisited , Eur J Hum Genet , 2009 , vol. 17 (pg. 1099 - 100 ) 6 Fibulins[academic.oup.com] During his early infancy, he had history of hospitalization for epistaxis, acute bronchopneumonia and pancytopenia.[ispub.com] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br]

  • Adactyly of Foot

    septal defect Scoliosis Clinodactyly of the 5th finger Oxycephaly Growth delay Short palm Micrognathia Respiratory insufficiency Short nose Optic atrophy Abnormality of the[mendelian.co] […] facioauriculovertibral sequence, 139 faciogenitopopliteal syndrome, 389 Fairbank disease, 17 familial de Lange syndrome, 364 glomangiomatosis, 44 Fanconi anemia, 121, 127, 321 Fanconi pancytopenia[docplayer.net] Synonyms:Anterior Polydactyly Replaces: Anterior Duplication of the Limb, Tibial Polydactyly Foot, Preaxial Polydactyly of Subjective: A widely spaced gap between the first[quizlet.com]

  • Trisomy 10p

    A small atrial and ventricular septal defect with normal ventricular function was noted on cardiac echocardiography.[edmcasereports.com] Terminal deletion of chromosome 11 can cause Jacobsen syndrome [ 44 ] and has previously been associated with hypogammaglobulinemia, pancytopenia and low T-helper cell counts[ojrd.biomedcentral.com] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com]

  • Weaver Syndrome

    Cardiovascular anomaly: mitral valve prolapse, ventricular septal defect, patent arteriosus ductus and congestive cardiomyopathy.[atlasgeneticsoncology.org] […] frequently in individuals with systemic juvenile idiopathic arthritis (SJIA) and in those with adult-onset Still disease. [1] Macrophage activation syndrome is characterized by pancytopenia[emedicine.medscape.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

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