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34 Possible Causes for Neonatal Hypoglycemia, 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] However, several cases of FBG have been detected through neonatal screening of galactose levels.[orpha.net] Infants have a round “doll” face.[clinicaladvisor.com]

  • Glycogen Storage Disease Type 3

    Some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver.[rarediseases.info.nih.gov] […] from hypoglycemia and accumulated glycogen, potentially improving the long-term health of children living in the eastern Hudson Bay region.[cmaj.ca] Infants have a round “doll” face.[clinicaladvisor.com]

  • Glycogen Storage Disease Type 6

    GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia and short stature.[mayoclinic.pure.elsevier.com] Patients with type 1 glycogen storage disease can present during the neonatal period with lactic acidosis and hypoglycemia.[themedicalbiochemistrypage.org] Infants have a round “doll” face.[clinicaladvisor.com]

  • Coats Plus Syndrome

    We conclude that the CRMCC-associated bone disease is characterized by low BMD and pathological fractures with delayed healing, metaphyseal changes, and short stature pre-[ncbi.nlm.nih.gov] Diabetes mellitus, transient neonatal 2 Hyperinsulinemic hypoglycemia, familial, 1 Hypoglycemia of infancy, leucine-sensitive ACADM ( MCAD) del Acyl-CoA dehydrogenase medium[uniklinik-freiburg.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]

  • 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] Septicemia, severe jaundice, hypoglycemia Postnatal (in infancy and childhood) Traumatic, accidental, infectious Brain infections such as tuberculosis, encephalitis, and[intechopen.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]

  • Barth Syndrome

    Barth syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia.[ncbi.nlm.nih.gov] […] with hypoglycemia, lactic acidosis and idiopathic mitochondrial disease.[ncbi.nlm.nih.gov] In early childhood, the face is round with full cheeks and an overall “cherubic” appearance (see Figure 8 ), whereas after the first decade and especially after puberty, the[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease due to GLUT2 Deficiency

    stature) persist into adulthood.[ncbi.nlm.nih.gov] However, several cases of FBG have been detected through neonatal screening of galactose levels.[orpha.net] Infants have a round “doll” face.[clinicaladvisor.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    MalaCards based summary : Disproportionate Short Stature with Ptosis and Valvular Heart Lesions, is also known as short stature-valvular heart disease-characteristic facies[malacards.org] Midline defects, such as a single central incisor or cleft palate, may be present. 16 Children with congenital GHD may present with neonatal hypoglycemia, prolonged jaundice[cmecorner.com] 50–65 ASD, VSD, PDA, LSVC, aortic atresia, dextrocardia, TOF, tricuspid atresia 22, 154 Deletion 5p (cri-du-chat) Catlike cry, prenatal and postnatal growth retardation, round[circ.ahajournals.org]

  • 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] 606176 Diabetes mellitus, transient neonatal 2 610374 Hyperinsulinemic hypoglycemia, familial, 1 256450 Hypoglycemia of infancy, leucine-sensitive 240800 A B CD1 Xq28 Adrenoleukodystrophy[institutobernabeu.com] Round face Wide anterior fontanel Rhizomelia Coxa vara Relative macrocephaly Thoracolumbar scoliosis Feeding difficulties Breech presentation Lumbar scoliosis Dentinogenesis[mendelian.co]

  • Metaphyseal Acroscyphodysplasia

    We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating[pure.unipa.it] […] diabetes mellitus, 2: 876 Neonatal hypoglycemia, 1: 146, 148 Neonatal pyruvate carboxylase deficiency, 2: 970–972 Nephrogenic diabetes insipidus (NDI), 2:793–796 Nerve growth[studfiles.net] Round face Wide anterior fontanel Rhizomelia Coxa vara Relative macrocephaly Thoracolumbar scoliosis Feeding difficulties Breech presentation Lumbar scoliosis Dentinogenesis[mendelian.co]

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