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13 Possible Causes for Renal Glycosuria, Thenar Eminence Hypoplasia

  • Acquired Fanconi Syndrome

    , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net] Defects in proximal tubular function can be isolated (e.g. isolated renal glycosuria, aminoacidurias, or hypophosphataemic rickets) or generalized.[oxfordmedicine.com] Renal glycosuria, hypokalemia, hypophosphatemia, metabolic acidosis, a low threshold of tubular bicarbonate excretion, and generalized aminoaciduria were observed after the[karger.com]

  • Autosomal Dominant Mental Retardation Type 21

    The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org] Adult onset osteomalacia, amino-aciduria, polyuria, glycosuria.[kumc.edu] Fanconi's Syndrome Type I (Child-onset cystinosis) Renal Autosomal Recessive.[kumc.edu]

  • Acrorenal Mandibular Syndrome

    eminence Optic disc hypoplasia Respiratory distress Duane anomaly Ureteral atresia Aplasia of the vagina Abnormality of upper lip Crossed fused renal ectopia Hemifacial hypoplasia[mendelian.co] glycosuria Methylmalonic aciduria, cblB type Pelvic dysplasia arthrogryposis of lower limbs Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome[checkrare.com] […] arteriosus Microcornea Pancreatic aplasia Respiratory insufficiency Flexion contracture Abnormality of the nasopharynx Milia Failure to thrive Generalized hypotonia Small thenar[mendelian.co]

  • Radial Ray Hypoplasia - Choanal Atresia Syndrome

    A sister of the proposita had hemifacial microsomia, cervical abnor- malities, and hypoplasia of the thenar eminence.[docslide.us] […] fusion Renal failure Renal genital middle ear anomalies Renal glycosuria Renal hepatic pancreatic dysplasia Dandy Walker cyst Renal hypertension Renal osteodystrophy Renal[fact-index.com] […] fusion Renal failure Renal genital middle ear anomalies Renal glycosuria Renal h – Renal t [ edit ] Renal hepatic pancreatic dysplasia Dandy Walker cyst Renal hypertension[en.wikipedia.org]

  • Fanconi Renotubular Syndrome Type 3

    , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net] […] leads to aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis (RTA) type 2 (proximal), hypophosphataemic rickets (children) or osteomalacia (adults), and renal[patient.info] A guide to fanconi syndrome, aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis, rickets in children and osteomalacia in adults.[drummed-commission.ga]

  • Fanconi Renotubular Syndrome Type 2

    , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net] […] leads to aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis (RTA) type 2 (proximal), hypophosphataemic rickets (children) or osteomalacia (adults), and renal[patient.info] Called also Fanconi anemia. 2. any of a group of diseases marked by dysfunction of the proximal renal tubules, with generalized hyperaminoaciduria, renal glycosuria, hyperphosphaturia[medical-dictionary.thefreedictionary.com]

  • Absent Radius - Anogenital Anomalies Syndrome

    The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org] […] fusion Renal failure Renal genital middle ear anomalies Renal glycosuria Renal h – Renal t [ edit ] Renal hepatic pancreatic dysplasia Dandy Walker cyst Renal hypertension[en.wikipedia.org] […] dysplasia diffuse autosomal recessive Renal dysplasia diffuse cystic Renal dysplasia limb defects Renal dysplasia megalocystis sirenomelia Renal dysplasia mesomelia radiohumeral[en.wikipedia.org]

  • Absence or Deformity of Leg- Cataract Syndrome

    The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org] Compare to Conn's Syndrome FANCONI'S SYNDROME Type II: Renal aminoaciduria, glycosuria, hypophosphaturia, cysteine deposition, rickets.[doctorslounge.com] glycosuria Methylmalonic aciduria, cblB type Pelvic dysplasia arthrogryposis of lower limbs Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome[checkrare.com]

  • Weyers Ulnar Ray - Oligodactyly Syndrome

    The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org] glycosuria Methylmalonic aciduria, cblB type Pelvic dysplasia arthrogryposis of lower limbs Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome[checkrare.com] […] congenital Hydroxykynureninuria Autosomal dominant hyper IgE syndrome Cerebro-costo-mandibular syndrome HMG CoA lyase deficiency Brachydactyly type A2 Bone dysplasia Azouz type Renal[checkrare.com]

  • Lower Limb Deficiency-Hypospadias Syndrome

    The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org] glycosuria Methylmalonic aciduria, cblB type Pelvic dysplasia arthrogryposis of lower limbs Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome[checkrare.com] […] congenital Hydroxykynureninuria Autosomal dominant hyper IgE syndrome Cerebro-costo-mandibular syndrome HMG CoA lyase deficiency Brachydactyly type A2 Bone dysplasia Azouz type Renal[checkrare.com]

Further symptoms