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13 Possible Causes for Developmental Delay, Proximal Renal Tubular Acidosis, Thenar Eminence Hypoplasia

  • Acquired Fanconi Syndrome

    Delay (10%): Mental retardation, developmental delay • Ears (10%): Deaf (usually conductive), abnormal shape, dysplastic, atretic, narrow ear canal, abnormal middle ear •[slideshare.net] , low-molecular-weight proteinuria and proximal renal tubular acidosis.[orpha.net] Kamn DE, Fischer MS (1972) Proximal renal tubular acidosis and the Fanconi’s syndrome in a patient with hypergammaglobulinemia.[link.springer.com]

  • 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[rgd.mcw.edu] […] of the thenar and hypothenar eminences (Learman et al. 1981).[rrnursingschool.biz] delay 0001263 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific[rarediseases.info.nih.gov]

  • Autosomal Dominant Mental Retardation Type 21

    developmental delay and Progressive cerebellar ataxia that can help you solving undiagnosed cases.[mendelian.co] Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation prune belly syndrome Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness[rgd.mcw.edu] The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org]

  • Acrootoocular Syndrome

    Delay CNS Tumor with Neuro Developmental Delay Cockayne syndrome Coffin Lowry syndrome Coffin Siris sydrome Cohen syndrome Cone Dystrophy Congenital Cytomegalovirus Congenital[de.slideshare.net] […] coloboma syndrome Renal Dysplasia - Limb Defects Syndrome Renal Nutcracker Syndrome Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation restless[rgd.mcw.edu] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[orpha.net]

  • Fanconi Renotubular Syndrome Type 3

    These individuals share similar characteristics, including being non-ambulatory, developmentally delayed and/or tube fed.[casereports.bmj.com] DOI: Proximal renal tubular acidosis with primary Fanconi syndrome Abstract Renal tubular acidosis (RTA) is associated with normal or near normal glomerular filtration rate[ijpediatrics.com] , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net]

  • Genee-Wiedemann Syndrome

    Wiedemann-Steiner syndrome is a rare genetic disorder which can cause developmental delay, feeding challenges, short stature, and low muscle tone.[wiedemannsteiner.com] tubular acidosis with deafness; 267300; ATP6B1 Renal tubular acidosis, distal, AD; 179800; SLC4A1 Renal tubular acidosis, distal, AR; 611590; SLC4A1 Renal tubular acidosis[howlingpixel.com] Aplastic clavicle Astigmatism Small thenar eminence Limited wrist movement Limited interphalangeal movement Hypoplasia of deltoid muscle Pectoralis major hypoplasia Abnormality[mendelian.co]

  • Fanconi Renotubular Syndrome Type 2

    delay Physical exam signs of rickets bowed legs scoliosis teeth abnormalities Imaging Radiographs indications if bone disease is suspected findings pathological fractures[step2.medbullets.com] Proximal Renal Tubular Acidosis (Type II) Causes of Proximal Renal Tubular Acidosis When the body performs its normal functions, it produces acid.[medvin2u.net] , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net]

  • Oculootoradial Syndrome

    recessive proximal renal tubular acidosis Autosomal recessive pseudohypoaldosteronism type 1 Autosomal recessive Robinow syndrome Autosomal recessive Segawa syndrome Autosomal[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]

  • Autosomal Recessive Mental Retardation Type 3

    Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation prune belly syndrome Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness[rgd.mcw.edu] The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org] Jump to navigation Jump to search Developmental Delay and Mental Retardation Introduction [ edit ] Contracting [ edit ] What is your understanding of why you were referred[en.wikibooks.org]

  • Hidrotic Ectodermal Dysplasia

    tubular acidosis with deafness ATP6V1B1 Renal tubular acidosis, distal, autosomal recessive ATP6V0A4 Renal tubular acidosis, proximal, with ocular abnormalities SLC4A4 Renale[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] Amr Genetics in Medicine (2016) A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics Magdalini[nature.com]

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