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18 Possible Causes for Congenital Hemolytic Anemia, Congestive Heart Failure, Round Face in Infancy

  • Glycogen Storage Disease Type 1

    Infants have a round “doll” face.[clinicaladvisor.com] Pyrimidine 5' nucleotidase deficiency presents with congenital hemolytic anemia because the residual nucleotides in young red cells (reticulocytes) cannot be metabolized and[cancertherapyadvisor.com] Congestive heart failure, respiratory failure, and/or aspiration pneumonia are the most frequent causes of death, which usually occurs within 1 year [1].[path.upmc.edu]

  • Glycogen Storage Disease Type 3

    Infants have a round “doll” face.[clinicaladvisor.com] […] adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias attributable to enzyme disorders ( D55.- ) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase[icd10data.com] heart failure.[nature.com]

  • Glycogen Storage Disease Type 9

    Infants have a round “doll” face.[clinicaladvisor.com] […] adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias attributable to enzyme disorders ( D55.- ) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase[icd10data.com] heart failure ( 17 39 40 ).[jnnp.bmj.com]

  • Mowat-Wilson Syndrome

    In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] […] adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias attributable to enzyme disorders ( D55.- ) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase[icd10data.com] Congestive Heart Failure where the heart is unable to pump out blood that is enough to the body that will lead to many problems if the disease is not managed well.[syndromespedia.com]

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    Infants have a round “doll” face.[clinicaladvisor.com] […] adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias attributable to enzyme disorders ( D55.- ) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase[icd10data.com] heart failure Arrhythmia Variant with no cardiac involvement: Longer survival Liver involvement Pulmonary: Pneumonia Motor Hypotonia (88%) Respiratory distress (80%) Weakness[neuromuscular.wustl.edu]

  • Glycogen Storage Disease Type 6

    Infants have a round “doll” face.[clinicaladvisor.com] […] adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias attributable to enzyme disorders ( D55.- ) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase[icd10data.com] heart failure.[nature.com]

  • Optic Atrophy-Intellectual Disability Syndrome

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] […] amaurosis HARS Usher syndrome HCN1 Cone rod dystrophy HGSNAT recessive retinitis pigmentosa HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency HMCN1 dominant[molecularvisionlab.com] heart failure syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome[se-atlas.de]

  • Congenital Non-Progressive Ataxia

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] Hemolytic anemia due to red cell pyruvate kinase deficiency Hemophagocytic lymphohistiocytosis Hemophilia A Hemophilia B Hereditary angioedema Hereditary breast cancer Hereditary[igenomix.us] heart failure syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome[se-atlas.de]

  • Eye Defects - Arachnodactyly - Cardiopathy Syndrome

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] Block; Congenital Heart Block CHBA Congenital Heinz Body Hemolytic Anemia CHBHA Congenital Heinz Body Hemolytic Anemia CHCL Congenital Healed Cleft Lip CHD Congenital Dislocation[medicabbreviations.com] It can cause valvular problems of the mitral and aortic valve on the left side of the heart and, on rare occasions, congestive heart failure.[childrenshospital.vanderbilt.org]

  • Pancreatic Hypoplasia - Diabetes - Congenital Heart Disease Syndrome

    face Retinal dystrophy Abnormality of eye movement Cirrhosis Aplasia/Hypoplasia of the cerebellar vermis Long face Diarrhea Splenomegaly Abnormality of the eye Abnormality[mendelian.co] Insulin-Dependent, With Fatal Secretory Diarrhea Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy[ukgtn.nhs.uk] Disease Congenital Heart Murmur (Heart Murmur) Congenital Malformations (Birth Defects) Congenital Poikiloderma (Rothmund-Thomson Syndrome) Congestive Heart Failure Connective[bmdservices.ca]

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