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1,312 Possible Causes for Proximal Renal Tubular Acidosis, Thenar Eminence Hypoplasia, Thumb Absence

  • Oculootoradial Syndrome

    recessive proximal renal tubular acidosis Autosomal recessive pseudohypoaldosteronism type 1 Autosomal recessive Robinow syndrome Autosomal recessive Segawa syndrome Autosomal[] 0008953 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Small thenar eminence 0001245 Showing of 31 Last updated: 6/1/2019 Making a diagnosis for a genetic or[] Thumb involvement is the most typical clinical manifestation and can range from absence or hypoplasia to the presence of a triphalangic thumb.[]

  • 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: Thumb Absence
  • Holt Oram Syndrome

    eminence, clinodactyly, or hypoplasia of the thumb 2 - Present arms and forearms, with one or more bones missing 3 - Phocomelia.[] This rare syndrome characterized by upper limb defects such as carpal bone defects, triphalangeal thumbs, hypoplasia or absence of the thumb and the radial ray are more frequent[] Besides the absence of thumbs and an atrial septal defect, she presented multiple strokes and end-stage renal failure.[]

    Missing: Proximal Renal Tubular Acidosis
  • 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[] These defects may include failure of the radius to grow (radial aplasia), underdevelopment of the radius (radial hypoplasia), underdevelopment or absence of the thumb and[] 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).[] Diagnosis of TAR syndrome is confirmed if a deletion is present in an individual with bilateral absence of the radius and presence of thumbs.[] 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.[] , absence or hypoplasia of the thumbs and loss of the flexion-extension ability of the thumbs, sindactyly, clinodactily, frequent proximal radio-ulnar synostosis.[]

  • 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.[] Deficient resorption in proximal tubules. (1) Cystine deposition throughout body, cystinuria. (2) Defective tubular resorption leads to amino-aciduria, polyuria, glycosuria[]

  • Hypokalemic Periodic Paralysis

    Abstract Proximal renal tubular acidosis (pRTA) is a rare disorder.[] A good rule of thumb is not to exceed 100 mEq in a day in the absence of an attack. Renal excretion of potassium is 90% and fecal excretion is 10%.[] 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[] […] of, with Taurodontia and Sparse Hair Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities Thumb Deformity and Alopecia Trichodental Dysplasia[]

  • Tricho-Retino-Dento-Digital Syndrome

    tubular acidosis SLC4A1 Spherocytosis SLC4A1 Ovalocytosis SLC4A1 Erythrocyte band 3 deficiency SLC4A1 Corneal endothelial dystrophy 2 SLC4A11 Proximal renal tubular acidosis[] absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb stiff brachydactyly mental retardation Thymic[] Acidosis, Distal, With Hemolytic Anemia 2 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 1 Renal Tubular Dysgenesis 6 Renpenning Syndrome[]

    Missing: Thenar Eminence Hypoplasia