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1,034 Possible Causes for Delayed Closure of Fontanelles, Proximal Renal Tubular Acidosis, Thenar Eminence Hypoplasia

  • Lenz-Majewski Syndrome

    Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation prune belly syndrome Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness[] […] of the thenar and hypothenar eminences (Learman et al. 1981).[] Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive[]

  • Acquired Fanconi Syndrome

    , low-molecular-weight proteinuria and proximal renal tubular acidosis.[] , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[] Kamn DE, Fischer MS (1972) Proximal renal tubular acidosis and the Fanconi’s syndrome in a patient with hypergammaglobulinemia.[]

    Missing: Delayed Closure of Fontanelles
  • Acidosis

    […] include: Kidney disease (distal renal tubular acidosis and proximal renal tubular acidosis) Poisoning by aspirin, ethylene glycol (found in antifreeze), or methanol Severe[] Kidney disease ( distal renal tubular acidosis and proximal renal tubular acidosis ). Poisoning by aspirin, ethylene glycol (found in antifreeze), or methanol.[] Exercising intensely Liver failure Medicines, such as salicylates Prolonged lack of oxygen from shock, heart failure, or severe anemia Seizures Other causes of metabolic acidosis[]

    Missing: Delayed Closure of Fontanelles Thenar Eminence Hypoplasia
  • Metabolic Syndrome

    ., Watanabe, H. (2002) molecular basis of proximal renal tubular acidosis.[] We report on a consanguineous Lebanese family where two sibs had an axial hypotonia, developmental delay, hirsutism, large fontanels with delayed closure, and dysmorphic facial[]

    Missing: Thenar Eminence Hypoplasia
  • Autosomal Recessive Cutis Laxa Type 1A

    tubular acidosis with deafness ATP6V1B1 Renal tubular acidosis, distal, autosomal recessive ATP6V0A4 Renal tubular acidosis, proximal, with ocular abnormalities SLC4A4 Renale[] Characteristics of the syndrome include congenital dislocation of the hips, wide patency and delayed closure of the anterior fontanel, and delayed intrauterine growth and[] Congenital hip dislocation, increased joint laxity, congenital or progressive microcephaly, delayed closure of large fontanels, osteoporosis and decreased bone density are[]

    Missing: Thenar Eminence Hypoplasia
  • Sjögren Syndrome

    Fanconi's syndrome is associated with impaired reabsorption in the proximal renal tubule associated with tubulointerstitial nephritis and is associated with renal tubular[] acidosis and hypophosphatemia.[] Sjögren's syndrome can also be associated with renal involvement.[]

    Missing: Delayed Closure of Fontanelles Thenar Eminence Hypoplasia
  • Nestor-Guillermo Progeria Syndrome

    tubular acidosis (RTA type 1) Proximal renal tubular acidosis (RTA type 2) Combined proximal and distal renal tubular acidosis (RTA type 3) Hyperkalemic distal renal tubular[] closure of anterior fontanel skeletal 100 % 21932319 2013-08-06 Alopecia integumentary 100 % 21932319 2013-08-06 Micrognathia skeletal 100 % 21932319 2013-08-06 Decreased[] Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3) SLC4A5 G:606757. . SLC4A7 G:603353. . SLC4A8 G:605024. . SLC4A9 G:610207. . SLC50A1 G:613683. .[]

    Missing: Thenar Eminence Hypoplasia
  • Hypocalcemic Vitamin D-Dependent Rickets

    ., metabolic acidosis and decreased 1,25-dihydroxyvitamin D synthesis renal tubular acidosis proximal (type II) renal tubular acidosis/Fanconi syndrome secondary to phosphate[] closure of the fontanelle.[] Softening of the skull (craniotabes) and frontal bossing in the first few months of life; delayed closure of fontanelles. Tender swollen joints.[]

    Missing: Thenar Eminence Hypoplasia
  • Multiple Myeloma

    Plasma cells are cells in the immune system that make antibodies, which help the body fight infection and disease. Plasma cell neoplasms are diseases in which the body makes too many plasma cells in the bone marrow and these cells are abnormal. The abnormal plasma cells make M proteins, which are abnormal antibodies[…][]

    Missing: Delayed Closure of Fontanelles Thenar Eminence Hypoplasia
  • Cleidocranial Dysplasia

    Cleidocranial dysplasia (CCD) is a rare genetic disorder of bone, characterised by hypoplastic/aplastic clavicles, delayed closure of fontanelles and sutures of the cranium[] We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fontanelles[] CCD is an autosomal skeletal disorder characterized by several features such as delayed closure of fontanels, dental abnormalities and hypoplastic clavicles.[]

    Missing: Proximal Renal Tubular Acidosis Thenar Eminence Hypoplasia

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