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4,400 Possible Causes for No Polydactyly, Onset of Renal Dysfunction in Early Childhood, Retinopathy

  • Alstrom Syndrome

    […] childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly[ncbi.nlm.nih.gov] Alström syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus, photophobia, and pigmentary retinopathy), progressive sensorineural hearing[ncbi.nlm.nih.gov] Sufferers often develop early-onset type 2 diabetes, renal and hepatic dysfunction affecting the liver and kidneys, bladder and bowel problems, and cardiomyopathy, where the[dailymail.co.uk]

  • Laurence Moon Syndrome

    Figure 2: showing polydactyly in lower limbs Figure 3: showing polydactyly in left hand Figure 4: showing high arched palate.[medresearch.in] Lau·rence-Moon syn·drome ( law'rĕnts mūn ), [MIM*245800] disorder characterized by mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia; autosomal[medical-dictionary.thefreedictionary.com] In one specific case, patients of the same family were described to exhibit retinopathy, subaverage intellectual ability, first metacarpal hypoplasia, abnormal development[symptoma.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Bardet-Biedl Syndrome Type 11

    Polydactyly-type limb anomalies - these may be the only feature present at birth and are reported in 63-81% of patients.[patient.info] Apply the latest knowledge on anti-VEGF therapy for age related macular degeneration, diabetic retinopathy and vein disease.[books.google.de] CASE REPORT Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review Retinopatia pigmentar devido a síndrome de Bardet-Biedl: relato de caso[scielo.br]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Senior-Løken Syndrome

    Physical examination should consider the presence of the main clinical signs of JSRD (hypotonia, ataxia and breathing abnormalities in infants) and BBS (polydactyly and obesity[orpha.net] We present two sisters with nephronophthisis and pigmentary retinopathy (Senior-Loken syndrome) and associated liver fibrosis.[ncbi.nlm.nih.gov] 0 Number of Tables: 0 ISSN: 1660-8151 (Print) eISSN: 2235-3186 (Online) For additional information: Abstract We present two sisters with nephronophthisis and pigmentary retinopathy[karger.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Retinitis Pigmentosa

    The two siblings showed signs of RP and polydactyly.[ncbi.nlm.nih.gov] She developed proliferative diabetic retinopathy (PDR) during the course of disease. She was promptly managed with pan retinal photocoagulation (PRP).[ncbi.nlm.nih.gov] METHODS: We conducted a retrospective analysis of patients with advanced HCQ retinopathy (n 11), pericentral RP (n 8) and diffuse RP (n 8).[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Cystic Kidney Disease

    Keywords: Meckel-Gruber syndrome, occipital encephalocele, polycystic kidney, polydactyly How to cite this article: Panduranga C, Kangle R, Badami R, Patil PV.[ruralneuropractice.com] Apply the latest knowledge on anti-VEGF therapy for age related macular degeneration, diabetic retinopathy and vein disease.[books.google.de] - elite association - COSMIC cancer census association via MalaCards Bardet-Biedl syndrome 13 (BBS13) [MIM:615990]: A syndrome characterized by usually severe pigmentary retinopathy[genecards.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Retinal Pigmentary Dystrophy

    Polydactyly is variably present.[uniprot.org] Carcinom assoziierte Retinopathie Kongenitale stationäre Nachtblindheit Kongenitale x-chromosomale Retinoschisis Melanom assoziierte Retinopathie Nachtblindheit, kongenitale[drdiag.hu] Laurence-Moon was described a similar syndrome with spastic paraplegia and no polydactyly.[atlasrleye.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Retinohepatoendocrinologic Syndrome

    Richieri Costa Silveira Pereira syndrome Richieri-Costa Colletto Otto syndrome Right atrium familial dilatation Right ventricle hypoplasia Rigid mask like face deafness polydactyly[mindmappedia.com] […] anemia CNS anomalies Retinopathy aplastic anemia neurological abnormalities Retinopathy pigmentary mental retardation Retinopathy, arteriosclerotic Retinopathy, diabetic[fact-index.com] […] syndrome Rickets Rickettsial disease Rickettsiosis Rieger syndrome Rift Valley fever Right atrium familial dilatation Right ventricle hypoplasia Rigid mask like face deafness polydactyly[ssf.f15ijp.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Retinopathy

    Neuropathy, motor and sensory, Russe type (Charcot-Marie-Tooth disease type 4G) AD/AR 9 7 IDH3B Retinitis pigmentosa AR 2 3 IFT140 Short -rib thoracic dysplasia with or without polydactyly[blueprintgenetics.com] There are several types of retinopathy, like diabetic retinopathy, hypertensive retinopathy, retinopathy of prematurity, radiation retinopathy, solar retinopathy, sickle-cell[symptoma.com] Pre-proliferative retinopathy is more extensive than background retinopathy.[patient.info]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Postaxial Oligodactyly, Tetramelic

    […] the commonest form of Polydactyly, accounting for about 78 % of all Polydactylies.[rrnursingschool.biz] […] recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy[mendelian.co] Osteogenesis imperfecta retinopathy[?] Osteogenic sarcoma[?] Osteoglophonic dwarfism[?] Osteolysis hereditary multicentric[?] Osteolysis syndrome recessive[?][encyclopedia.kids.net.au]

    Missing: Onset of Renal Dysfunction in Early Childhood

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