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23 Possible Causes for Congenital Hemolytic Anemia, Round Face in Infancy, Short Stature

  • Glycogen Storage Disease Type 1

    Short stature was demonstrated in 3 of 4 patients with GSD1b and GH deficiency.[ncbi.nlm.nih.gov] 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]

  • Mowat-Wilson Syndrome

    Patients can show a variety of other anomalies like short stature, microcephaly, Hirschsprung disease, malformations of the brain, seizures, congenital heart defects and urogenital[ncbi.nlm.nih.gov] 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]

  • Glycogen Storage Disease Type 3

    Some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver.[rarediseases.info.nih.gov] 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]

  • Autosomal Dominant Mental Retardation Type 21

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia Leukomelanoderma, Infantilism, Mental[rgd.mcw.edu]

  • Cole-Carpenter Syndrome

    The skull is poorly ossified and frequent diaphyseal fractures of the long bones occur leading to motor delays and short stature. Rib fractures are sometimes seen.[disorders.eyes.arizona.edu] Round face Wide anterior fontanel Rhizomelia Coxa vara Relative macrocephaly Thoracolumbar scoliosis Feeding difficulties Breech presentation Lumbar scoliosis Dentinogenesis[mendelian.co] 4, autosomal recessive 612541 G6PD Xq28 Favism 134700 Hemolytic anemia due to G6PD deficiency 300908 Resistance to malaria due to G6PD deficiency 611162 GAA 17q25.3 Glycogen[institutobernabeu.com]

  • Glycogen Storage Disease Type 6

    GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia and short stature.[mayoclinic.pure.elsevier.com] 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]

  • Glycogen Storage Disease Type 9

    A 5-year-old boy with short stature, hepatomegaly and motor weakness due to hepatic phosphorylase kinase deficiency is described.[ncbi.nlm.nih.gov] 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]

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    Clinical manifestations include hepatomegaly, hypoglycemia, short stature, and sometimes myopathy and cardiomyopathy 12.[path.upmc.edu] 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]

  • Optic Atrophy-Intellectual Disability Syndrome

    Short stature, abnormal CNS neurotransmitters, and macrocephaly have not been previously reported for this syndrome and may represent a phenotypic expansion of BBSOAS.[mayoclinic.pure.elsevier.com] 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]

  • Congenital Non-Progressive Ataxia

    dysplasia-epilepsy-short stature syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Sodium channelopathy-related small fiber neuropathy Solitary median maxillary[se-atlas.de] 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]

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