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28 Possible Causes for Acidosis, Thenar Eminence Hypoplasia

  • Acquired Fanconi Syndrome

    The arterial blood gas analysis showed metabolic acidosis (Table 1 ).[bmcnephrol.biomedcentral.com] , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net] Osteomalacia is a rare complication of renal tubular acidosis, and it was reported to be associated with distal renal tubular acidosis in Sjögren’s syndrome.[link.springer.com]

  • Acrootoocular Syndrome

    Renal tubular acidosis and hearing loss. This is an autosomal recessive condition ... Townes-Brock syndrome.[ibis-birthdefects.org] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[orpha.net] 295 ANKH Calcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type AD 12 20 ATP6V1B1 Renal tubular acidosis[blueprintgenetics.com]

  • Autosomal Dominant Mental Retardation Type 21

    Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.[mitomap.org] The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org] GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 GOMBO Syndrome Gomez Lopez Hernandez Syndrome Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic[rgd.mcw.edu]

  • Postaxial Oligodactyly, Tetramelic

    Nievergelt type Mesomelic dwarfism Reinhardt–Pfeiffer type Mesomelic dysplasia skin dimples Mesomelic dysplasia Thai type Mesomelic syndrome Pfeiffer type Mesothelioma Met Meta Metabolic[sosu.us] The only ocular motility disorder with upper limb defects is the Duane-radial ray syndrome with radial ray abnormalities ranging from hypoplasia of the thenar eminence to[jmg.bmj.com] Osteopetrosis renal tubular acidosis[?] Osteopetrosis, (generic term)[?] Osteopetrosis, malignant[?] Osteopetrosis, mild autosomal recessive form[?] Osteopoikilosis[?][encyclopedia.kids.net.au]

  • Fanconi Renotubular Syndrome Type 2

    […] alkalosis instead of a metabolic acidosis.[clinicaladvisor.com] , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net] Urology on Nov, 09, 2014 There is a selective defect in proximal tubule in acidifying urine that results in metabolic acidosis.[medvin2u.net]

  • Fanconi Renotubular Syndrome Type 3

    […] alkalosis instead of a metabolic acidosis.[clinicaladvisor.com] , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net] If the kidneys do not effectively eliminate acid, it builds up in the blood, leading to a condition called metabolic acidosis.[the-medical-dictionary.com]

  • Oculootoradial Syndrome

    […] type 1a Renal tubular acidosis type 1b Renal tubular acidosis type 1c Renal tubular acidosis type 3 Renal tubular dysgenesis of genetic origin Renal tubulopathy - encephalopathy[csbg.cnb.csic.es] 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[rarediseases.info.nih.gov] 0008953 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Small thenar eminence 0001245 Showing of 31 Last updated: 5/1/2019 Making a diagnosis for a genetic or[rarediseases.info.nih.gov]

  • Tel Hashomer Camptodactyly Syndrome

    Congenital Universal, of Krabbe Musculoskeletal Pain Myalgia myelodysplastic syndrome myofascial pain syndrome Myopathic Carnitine Deficiency myopathy Myopathy with Lactic Acidosis[rgd.mcw.edu] She had facial asymmetry, ocular hypertelorism, small mouth, poor muscular development, poor lower leg muscle development, and hypoplasia of the thenar and hypothenar eminences[cags.org.ae]

  • Hidrotic Ectodermal Dysplasia

    […] with deafness ATP6V1B1 Renal tubular acidosis, distal, autosomal recessive ATP6V0A4 Renal tubular acidosis, proximal, with ocular abnormalities SLC4A4 Renale tubuläre Azidose[meduniwien.ac.at] […] wrist movement Small thenar eminence Aplastic clavicle Limited elbow movement Short 1st metacarpal Cleft lip Rectovaginal fistula Right bundle branch block Carpal synostosis[mendelian.co] […] perineoscrotal hypospadias SRD5A2 Pseudoxanthoma Elasticum P092-B2, ABCC6 Pulmonale Hypertonie BMPR2 Pyruvatkinasemangel PKLR, PK Refsum-Syndrom PHYH, PEX7 Renal tubular acidosis[meduniwien.ac.at]

  • Fanconi Anemia

    Fanconi syndrome leads to kidney problems and problems of acidification known as Renal Tubular Acidosis (RTA). Fanconi anemia is a blood disorder.[pediatriconcall.com] eminence, absent first metacarpal, clinodactyly, polydactyly – Head : Microcephaly, hydrocephaly – Face: dysmorphic, micrognathia, mid-face hypoplasia – Neck: Sprengel’s[cancertherapyadvisor.com] eminence, absent first metacarpal, clinodactyly, polydactyly - Head : Microcephaly, hydrocephaly - Face: dysmorphic, micrognathia, mid-face hypoplasia - Neck: Sprengel's[cancertherapyadvisor.com]

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