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15 Possible Causes for Clubbed Digits, Focal Atrophy of Choroid

  • Hemochromatosis

    The spectral domain optical coherence tomography showed retinal pigmentary epithelial atrophy associated with irregularities and focal interruption of the ellipsoid zone.[ncbi.nlm.nih.gov] A thin retina was also observed in the foveolar region associated to a thickened choroid. Full-field electroretinogram showed a decrease of rods and cones responses.[ncbi.nlm.nih.gov]

  • Paraneoplastic Syndrome

    Exploring the cause of the most ancient clinical sign in medicine: finger clubbing . Semin. Arthritis Rheum. 36 , 380–385 (2007). 9. Rutherford, J. D. Digital clubbing .[nature.com] D) OCT of the same eye demonstrated neurosensory detachment over the macula with focal areas of RPE atrophy and hypertrophy.[reviewofophthalmology.com] Vascular endothelial growth factor (VEGF)-A and platelet-derived growth factor (PDGF) play a central role in the pathogenesis of digital clubbing.[ncbi.nlm.nih.gov]

  • Mulibrey Nanism Syndrome

    clubbing, isolated congenital; 119900; HPGD Dihydropyrimidine dehydrogenase deficiency; 274270; DPYD Dihydropyrimidinuria; 222748; DPYS Dilated cardiomyopathy with woolly[howlingpixel.com] The optic nerve and the macula appeared normal while the midperiphery showed focal choroidal hypoplasia with marked atrophy of the retina and of the pigment epithelium.[eurekamag.com] […] dysplasia; 222600; SLC26A2 Diastrophic dysplasia, broad bone-platyspondylic variant; 222600; SLC26A2 Dicarboxylic aminoaciduria; 222730; SLC1A1 DiGeorge syndrome; 188400; TBX1 Digital[howlingpixel.com]

  • Weissenbacher-Zweymuller Syndrome

    clubbing Isolated congenital radial head dislocation Isolated craniosynostosis Isolated osteopoikilosis Isolated oxycephaly Isolated plagiocephaly Isolated scaphocephaly[se-atlas.de] Frontometaphyseal dysplasia Gardner syndrome Geroderma osteodysplastica Giant cell glioblastoma Gliosarcoma Glycogen storage disease due to aldolase A deficiency Gyrate atrophy[csbg.cnb.csic.es] Isolated Klippel-Feil syndrome Isolated anencephaly/exencephaly Isolated brachycephaly Isolated cloverleaf skull syndrome Isolated complex I deficiency Isolated congenital digital[se-atlas.de]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Arthropathy-Brachydactyly, Familial FDAB 606835 Genetic Test Registry Digital Clubbing, Isolated Congenital 119900 Genetic Test Registry Disordered Steroidogenesis due to[ukgtn.nhs.uk] Frontometaphyseal dysplasia Gardner syndrome Geroderma osteodysplastica Giant cell glioblastoma Gliosarcoma Glycogen storage disease due to aldolase A deficiency Gyrate atrophy[csbg.cnb.csic.es] clubbing, isolated congenital HPGD Dihydrolipoamide dehydrogenase deficiency (DLDD) DLD ( LAD) Disorder of sex development, 46,XY NR5A1 Disordered steroidogenesis due to[uniklinik-freiburg.de]

  • Macular Dystrophy with Central Cone Involvement

    Clubbing, Isolated Congenital 1 Dihydrolipoamide dehydrogenase deficiency 3 Dihydropteridine Reductase Deficiency 2 Dihydropyrimidinase Deficiency 1 Dihydropyrimidine Dehydrogenase[preventiongenetics.com] Beginning in the midperiphery there are focal areas of choroidal atrophy with well-circumscribed borders separating normal from abnormal tissue.[atlasrleye.com] Diamond-Blackfan Anemia 9 2 Diaphanospondylodysostosis 2 Diaphragmatic Hernia 3 1 Diarrhea 5, With Tufting Enteropathy, Congenital 2 Dias-Logan Syndrome 3 Diastrophic Dysplasia 4 Digital[preventiongenetics.com]

  • Syndactyly Type 3

    .  Surgery – very little role. 9. ii) Radial ray dysplasia (aka: Radial club hand/Preaxial deficiency/Longitudinal radial deficiency)  Radially deviated, flexed hand with[slideshare.net] […] of choroid and retina Hereditary spherocytosis Hypomyelination with atrophy of basal ganglia and cerebellum Hypomyelination with brain stem and spinal cord involvement and[csbg.cnb.csic.es] […] pronated and shortened forearm.  Deficient thumb ray & carpal bones (scaphoid & trapezium), radial nerve & vessels • Normal ulnar two digits • Median nerve subluxed towards[slideshare.net]

  • Mirhosseini-Holmes-Walton Syndrome

    digits Mental r Mental retardation Mental retardation a – Mental retardation m Mental retardation anophthalmia craniosynostosis Mental retardation arachnodactyly hypotonia[sosu.us] […] iris atrophy.[scielo.br] Meningoencephalocele-arthrogryposis-hypoplastic thumb Meningomyelocele Ment Menta Mental Mental d – Mental m Mental deficiency-epilepsy-endocrine disorders Mental mixed retardation deafnes clubbed[sosu.us]

  • Autosomal Dominant Myopia 22

    clubbing Isolated congenital radial head dislocation Isolated craniosynostosis Isolated osteopoikilosis Isolated oxycephaly Isolated plagiocephaly Isolated scaphocephaly[se-atlas.de] On the basis of this report, clinicians should be alert to the possibility that ram il i es with autosomal dominant microcephaly and the classic focal areas of choroidal and[healio.com] Isolated Klippel-Feil syndrome Isolated anencephaly/exencephaly Isolated brachycephaly Isolated cloverleaf skull syndrome Isolated complex I deficiency Isolated congenital digital[se-atlas.de]

  • Prekallikrein Deficiency, Congenital, Autosomal Recessive

    (ICNC); Isolated congenital digital clubbing16406 295ds:H01254 Congenital prothrombin deficiency15248 296ds:H01258 Generalized epilepsy and paroxysmal dyskinesia (GEPD)132[carlsbad.health.unm.edu] Frontometaphyseal dysplasia Gardner syndrome Geroderma osteodysplastica Giant cell glioblastoma Gliosarcoma Glycogen storage disease due to aldolase A deficiency Gyrate atrophy[csbg.cnb.csic.es] Type A insulin resistance1695 292ds:H01235 Bleeding disorder platelet-type22144 293ds:H01243 Huntington's disease-like syndrome110 294ds:H01246 Isolated congenital nail clubbing[carlsbad.health.unm.edu]

Further symptoms