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111 Possible Causes for Brushfield Spot, Cystic Kidney Disease

  • Zellweger Syndrome

    kidney disease:常染色体劣性多嚢胞の腎臓疾患 Congenital disorder of glycosylation type 1A:CDG症候群 IA型 Congenital disorder of glycosylation type 1E:CDG症候群 IE型 Nonsyndromic hearing loss and[mondomedi.com] We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[ncbi.nlm.nih.gov] Clinical Features [ edit ] Craniofacial Features Flat occiput and face Anteverted nares Epicanthal folds Brushfield spots High forehead Large fontanels Shallow orbits Ocular[en.wikibooks.org]

  • Gorlin Psaume Syndrome

    Familial oro-faciodigital syndrome type 1 presenting as adult poly-cystic kidney disease. J Med Genet 1987;24:84-87.20.[docslide.us] spots, simian crease Trisomy 13 (patau): cleft lip palate, polydactyly, capillary haemangioma trisomy 18 (Edward): hypoplastic nails, small mouth, short sternum Core binding[de.slideshare.net] Visceral involvement includes polycystic kidney disease (at least 50%), and hepatic and pancreatic cystic disease. Hearing problems have also been described in about 6%.[orpha.net]

  • High Myopia-Sensorineural Deafness Syndrome

    kidney disease Leigh syndrome with leukodystrophy Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation Lissencephaly due to LIS1 mutation Lissencephaly[csbg.cnb.csic.es] Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[tsbvi.edu] Ocular features include Brushfield's spots (small white spots on the periphery of the iris which are found sometimes in unaffected children).[patient.info]

  • Spastic Paraparesis-Deafness Syndrome

    kidney disease with hyperuricemia Brooks Wisniewski Brown syndrome Charcot-Marie-Tooth disease Trigonocephaly bifid nose acral anomalies Dihydropyrimidine dehydrogenase deficiency[checkrare.com] ) spots overlying the iris of the eye.[diapedia.org] Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[tsbvi.edu]

  • Familial Congenital Palsy of Trochlear Nerve

    kidney disease Lethal ataxia with deafness and optic atrophy Limited cutaneous systemic sclerosis Limited systemic sclerosis Lissencephaly due to TUBA1A mutation MELAS syndrome[csbg.cnb.csic.es] spots, 111 C Top Caffeine, 30 Canavan disease, 114, 288 Carbamyl phosphate synthetase deficiency, 80 Carbohydrate metabolism disorders, 81 Carbohydrate-deficient glycoprotein[pediatricneuro.com] Herpetic encephalitis Hyperinsulinism due to HNF1A deficiency Isolated ATP synthase deficiency Isolated cytochrome C oxidase deficiency Late-onset autosomal recessive medullary cystic[csbg.cnb.csic.es]

  • Helsmoortel-van der Aa Syndrome

    Medullary cystic kidney disease type 2. Am J Kidney Dis 2004;43: 1142. [ PUBMED ] 6. Devuyst O.[sjkdt.org] ) spots overlying the iris of the eye.[diapedia.org] The classification of renal cystic diseases and other congenital malformations of the kidney and urinary tract.[ncbi.nlm.nih.gov]

  • Fitzsimmons-McLachlan-Gilbert Syndrome

    kidney polydactyly Multip Multiple a – Multiple p Multiple acyl-CoA deficiency Multiple carboxylase deficiency, biotin responsive Multiple carboxylase deficiency, late onset[sosu.us] spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, simian crease, congenital cataracts , and some intellectual disabilities[wellnessadvocate.com] […] nephropathy Multicentric reticulohistiocytosis Multifocal heterotopia Multifocal motor neuropathy Multifocal ventricular premature beats Multi-infarct dementia Multinodular goiter cystic[sosu.us]

  • Infantile Choroidocerebral Calcification Syndrome

    kidney disease, autosomal dominant 0,11 12 13 Megacystis microcolon - intestinal hypoperistalsis - hydronephrosis Megaepiphyseal dwarfism Megalencephaly - polymicrogyria[docplayer.net] Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[tsbvi.edu] Cystic hygroma lethal - cleft palate Cystinosis 0,5 Cystinuria 14 Cystoid macular dystrophy Dacryocystitis osteopoikilosis Dahlberg-Borer-Newcomer syndrome Dandy Walker -[docplayer.net]

  • Acrootoocular Syndrome

    kidney disease with hyperuricemia [ ] Autosomal dominant medullary cystic kidney disease with or without hyperuricemia [ ] Autosomal dominant medullary cystic kidney disease[wikicure.wikia.com] spots, upslanting palpebral fissures, epicanthal folds/Most cases not inherited /Trisomy 21 (most cases), translocation, mosaic /#190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.org] spots, upslanting palpebral fissures, epicanthal folds Most cases not inherited Trisomy 21 (most cases), translocation, mosaic #190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.aao.org]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    , see autosomal dominant partial epilepsy with auditory features autosomal dominant leukodystrophy with autonomic disease autosomal dominant medullary cystic kidney disease[mygenomics.com] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu] disease, see medullary cystic kidney disease type 1 autosomal dominant Job syndrome, see autosomal dominant hyper-IgE syndrome Autosomal dominant lateral temporal lobe epilepsy[mygenomics.com]

Further symptoms

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