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1,816 Possible Causes for Proximal Renal Tubular Acidosis, Thenar Eminence Hypoplasia, Thin Lips

  • Autosomal Dominant Mental Retardation Type 21

    Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation prune belly syndrome Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness[] The radial defects range from thenar eminence hypoplasia to radial absence.[] lips.[]

  • 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: Thin Lips
  • Adult Fanconi Syndrome

    Abstract To compare the difference between primary proximal renal tubular acidosis (PRTA) and Fanconi syndrome (FS), and to find out possible risk factors for growth retardation[] Such facial features may include deep-set eyes, abnormally thin upper lip, abnormally small jaw (micrognathia), and a depressed bridge of the nose.[] Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement.[]

    Missing: Thenar Eminence Hypoplasia
  • Fanconi Renotubular Syndrome

    These findings were suggestive of proximal renal tubular acidosis (Fanconi syndrome).[] Lips may be treated with appropriate ointments.[] Fanconi syndrome was suggested by multiple proximal tubular defects including renal glucosuria, hyperuricosuria, hyperphosphaturia, proximal renal tubular acidosis, and kaliuresis[]

    Missing: Thenar Eminence Hypoplasia
  • Acrootoocular Syndrome

    […] coloboma syndrome Renal Dysplasia - Limb Defects Syndrome Renal Nutcracker Syndrome Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation restless[] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[] Focus on the craniofacial system should include an evaluation for PRS, EAC stenosis, prominent nose, thin upper lip, and asymmetric facies ( Fig 7 ).[]

  • Pyruvate Carboxylase Deficiency

    A child with lactic acidosis, severe mental and developmental retardation, and proximal renal tubular acidosis is presented.[] Dysmorphic facial features (frontal bossing, upturned nose, thin upper lip, and low-set ears), short fingers and nails, simian creases, and hypospadia may be present.[] Also given are values for these enzymes in the leukocytes and fibroblasts from a severely mentally and developmentally retarded patient with proximal renal tubular acidosis[]

    Missing: Thenar Eminence Hypoplasia
  • Hypokalemic Periodic Paralysis

    Abstract Proximal renal tubular acidosis (pRTA) is a rare disorder.[] […] upper lip, small hands/feet, residual primary dentition, delayed bone age [16] ATS McManis nerve conduction protocol (i.e., changes in compound muscle action potential after[] The third has an isolated proximal renal tubular acidosis complicated with multiple organ abnormalities, unilateral carotid artery stenosis, respiratory failure, and consciousness[]

    Missing: Thenar Eminence Hypoplasia
  • Hidrotic Ectodermal Dysplasia

    tubular acidosis with deafness ATP6V1B1 Renal tubular acidosis, distal, autosomal recessive ATP6V0A4 Renal tubular acidosis, proximal, with ocular abnormalities SLC4A4 Renale[] […] wrist movement Small thenar eminence Aplastic clavicle Limited elbow movement Short 1st metacarpal Cleft lip Rectovaginal fistula Right bundle branch block Carpal synostosis[] They had square faces with prominent frontal bossing, prominent supraorbital ridges, pointed chin, flattened nasal bridge and thick everted lips.[]

  • 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: Thenar Eminence Hypoplasia Thin Lips
  • Genee-Wiedemann Syndrome

    tubular acidosis with deafness; 267300; ATP6B1 Renal tubular acidosis, distal, AD; 179800; SLC4A1 Renal tubular acidosis, distal, AR; 611590; SLC4A1 Renal tubular acidosis[] Aplastic clavicle Astigmatism Small thenar eminence Limited wrist movement Limited interphalangeal movement Hypoplasia of deltoid muscle Pectoralis major hypoplasia Abnormality[] lips, hypertelorism (Figure 1 A-D, Table 1 ).[]