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1,813 Possible Causes for Ectropion, Proximal Renal Tubular Acidosis, Thenar Eminence Hypoplasia

  • 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[] Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion[] Aplastic clavicle Astigmatism Small thenar eminence Limited wrist movement Limited interphalangeal movement Hypoplasia of deltoid muscle Pectoralis major hypoplasia Abnormality[]

  • Sjögren Syndrome

    Fanconi's syndrome is associated with impaired reabsorption in the proximal renal tubule associated with tubulointerstitial nephritis and is associated with renal tubular[] […] may result from the following disorders of eyelid aperture and eyelid-globe congruity: Exposure (eg, craniostenosis, proptosis, exophthalmos, and high myopia) Lid palsy Ectropion[] acidosis and hypophosphatemia.[]

    Missing: Thenar Eminence Hypoplasia
  • 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: Ectropion
  • Congenital Upper Palpebral Retraction

    ectropion of left eye, unspecified eyelid H02.129 Mechanical ectropion of unspecified eye, unspecified eyelid H02.13 Senile ectropion of eyelid H02.131 Senile ectropion of[] The radial defects range from thenar eminence hypoplasia to radial absence.[] Ectropion Ectropion denotes outward rotation of the eyelid margin ( See Figure 4).[]

    Missing: Proximal Renal Tubular Acidosis
  • Oculocerebrorenal Syndrome

    Lowe's Syndrome - Renal Complications: Aminoaciduria Fanconi-type renal tubular dysfunction Phosphaturia Proteinuria Progressive renal failure Proximal renal tubular acidosis[] End stage glaucoma in patient 2 resulted in the enucleation of the eye, which on histology demonstrated corneal keloid, fibrous infiltration of the angle, ectropion uvea,[] Kidneys : Renal tubular dysfunction similar to Fanconi syndrome which include proximal renal tubular acidosis, proteinuria, phosphaturia, renal rickets.[]

    Missing: Thenar Eminence Hypoplasia
  • Oculootoradial Syndrome

    recessive proximal renal tubular acidosis Autosomal recessive pseudohypoaldosteronism type 1 Autosomal recessive Robinow syndrome Autosomal recessive Segawa syndrome Autosomal[] […] teeth Marsden syndrome Oculootoradial syndrome Orbital lymphangioma Tetrasomy 15q ectropion and conical teeth Clefting LDYT Jabs syndrome Organic acidemia TGA Lagophthalmia[] 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[]

  • 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[] Congenital ectropion is rare and often caused by a vertical deficiency of the anterior lamella of the eyelids.[] The radial defects range from thenar eminence hypoplasia to radial absence.[]

  • Acrootoocular Syndrome

    […] coloboma syndrome Renal Dysplasia - Limb Defects Syndrome Renal Nutcracker Syndrome Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation restless[] Patients with Miller syndrome have downward slanting eyelids, ectropion and lower eyelid coloboma. Hypotia and conductive hearing loss are present.[] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[]

  • Rieger Syndrome

    tubular acidosis with deafness ATP6V1B1 Renal tubular acidosis, distal, autosomal recessive ATP6V0A4 Renal tubular acidosis, proximal, with ocular abnormalities SLC4A4 Renale[] Note smooth, cryptless iris, ectropion uveae, and corectopia. There was no family history of glaucoma or other eye malformation.[] Typical ARS was defined as the presence of posterior embryotoxon with or without iris changes like stromal hypoplasia, corectopia, polycoria, or ectropion uvea with or without[]

    Missing: Thenar Eminence Hypoplasia
  • Autosomal Dominant Keratitis

    Acidosis, Distal, With Hemolytic Anemia 2 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 2 Renal Tubular Dysgenesis 6 Renpenning Syndrome[] Congenital iris ectropion as an indicator of variant aniridia. Br J Ophthalmol 2006;90:658-569. 5.[] Several had abnormalities of the iris, including iris stromal defects and ectropion uveae.[]

    Missing: Thenar Eminence Hypoplasia

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