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1,979 Possible Causes for Abnormal Amniotic Fluid, Death in Infancy, Wide Space Between the First and Second Toe

  • Down Syndrome

    Therefore, alterations in amniotic fluid metabolites may provide important clues to understanding the etiology of fetal disease and help to develop diagnostic testing for[ncbi.nlm.nih.gov] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

    Missing: Death in Infancy
  • Isovaleric Acidemia

    The acute severe phenotype typically results in death during early infancy, whereas patients with the chronic intermittent form are asymptomatic at baseline but have episodes[ncbi.nlm.nih.gov] The course may be rapidly progressive, with death in early infancy, or may be prolonged, with evidence of mental retardation if untreated.[jamanetwork.com] Without treatment, the disorder symptoms worsen and death occurs in infancy.[evolvegene.com]

    Missing: Wide Space Between the First and Second Toe
  • Maple Syrup Urine Disease

    If left untreated, MSUD results in severe brain damage, coma, and death in infancy. MSUD can be effectively managed with dietary restriction of proteins.[knowyourgenes.org] Early diagnosis of MSUD is essential to prevent neurological damage and death in infancy. Some states, but not all, have mandatory screening programs for MSUD.[diet.com] Later in infancy or childhood, developmental delays are noted.[secure.ssa.gov]

    Missing: Wide Space Between the First and Second Toe
  • Ornithine Transcarbamylase Deficiency

    This result indicates that for the late-onset form, deaths were rare during infancy, whereas a peak in mortality occurred at adolescence (9-14 years) in the 1 mth-16 y group[ojrd.biomedcentral.com] ; it must not be forgotten that gene therapy is a treatment in its infancy and is certain to improve.[doi.org] […] following: Anorexia Irritability Heavy or rapid breathing Lethargy Vomiting Disorientation Somnolence Asterixis (rare) Combativeness Obtundation Coma [2] Cerebral edema Death[emedicine.com]

    Missing: Wide Space Between the First and Second Toe
  • Carbamoyl Phosphate Synthetase Deficiency

    If left untreated, the disorder will typically results in death of the patient.[rarediseases.org] Those with the milder form of CPSID show symptoms later during infancy, childhood, or adulthood.[rarediseases.org]

    Missing: Wide Space Between the First and Second Toe
  • Cystic Fibrosis

    Cystic fibrosis-related deaths in infancy and the effect of newborn screening. Pediatr Pulmonol 2001 ; 31 : 363 –6. 13. Dankert-Roelse J, te Meerman GJ.[aje.oxfordjournals.org] fluid.[oadoi.org] Claus D, Pringot J, Francois B, De Meyer R (1973) The intestinal radiological abnormalities of cystic fibrosis. Ann Radiol 16:177–181 Google Scholar 11.[oadoi.org]

    Missing: Wide Space Between the First and Second Toe
  • Atelosteogenesis Type 2

    Death is frequent in infancy due to respiratory insufficiency. Gonadal dysgenesis may culminate in sex reversal of affected XY cases.[musculoskeletalkey.com] Fluid Abnormalities Chapter 120 Polyhydramnios Chapter 121 Oligohydramnios Section Two Fetal Fluid Abnormalities Chapter 122 Lymphedema and Lymphatic Malformations Chapter[elsevier.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]

  • Multiple Carboxylase Deficiency

    […] to coma and death. 2.[link.springer.com] Clinical presentation: severe acidotic illness neonatally or in early infancy with seizures, skin rash, alopecia, and characteristic organic aciduria, rapidly progressing[link.springer.com]

    Missing: Wide Space Between the First and Second Toe
  • Argininosuccinic Aciduria

    Failure to treat Argininosuccinate Lyase Deficiency results in worsening symptoms and death in infancy.[evolvegene.com] Many of the organic acid disorders may also cause death during infancy.[new.dhh.louisiana.gov]

    Missing: Wide Space Between the First and Second Toe
  • HMG-CoA Lyase Deficiency

    Symptoms generally begin from infancy up to 3 years of age. Affected children may be healthy between metabolic crises.[medicalhomeportal.org] 「グルタル酸血症2型が疑われた sudden unex-pected death in infancy の1例」 尾崎佳代, 奥野美佐子, 丸山あずさ, 上谷良行, 虫本雄一, 小林弘典, 長谷川有紀, 山口清次 第114回日本小児科学会学術集会 2011年 135.[staffsearch.shimane-u.ac.jp] The acidosis of this enzyme deficiency progresses rapidly, leading to cardiopulmonary arrest and death within hours of onset unless treated promptly.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe

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