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263 Possible Causes for Congenital Ear Deformity, Ectopia Lentis, Mostly Sporadic, Rarely Somatic and Germline Mosaicism

Did you mean: Congenital Ear Deformity, Ectopia Lentis, Mostly Sporadic, Rarely, Somatic, and Germline Mosaicism

  • Congenital Contractural Arachnodactyly

    We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation.[ncbi.nlm.nih.gov] […] contractural deformities of the knees and elbows.[ncbi.nlm.nih.gov] The mother was a somatic mosaic for the mutation and demonstrated the classic CCA phenotype.[doi.org] Ectopia lentis was also linked to the fibrillin gene on chromosome 15, whereas congenital contractural arachnodactyly was linked to the fibrillin gene on chromosome 5.[ncbi.nlm.nih.gov]

    Missing: Mostly Sporadic
  • Isolated Congenital Sclerocornea

    EYE FINDING/MODE OF INHERITANCE/KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED/MIM SYMBOL & NUMBER REFERENCE VACTERL ASSOCIATION WITH HYDROCEPHALUS/Downward gaze of eyes/Mostly[eyewiki.org] lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea[se-atlas.de] ., 1965), polydactyly, lacunae of the parietal bones, cranial dystrophies, deformities of the ear and congenital cerebellar symptoms (Goldstein & Cogan, 1962).[documents.tips] Therefore, geneticists suggest that OCC syndrome is caused by a genetic change (a mutation) that appears to be present in part of the cells of the body only (somatic mosaicism[rarediseases.org]

  • Syndromic Microphthalmia Type 10

    EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE VACTERL ASSOCIATION WITH HYDROCEPHALUS Downward gaze of eyes Mostly[eyewiki.aao.org] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q11- Anophthalmos[icd10data.com] A postzygotic de novo mutation leading to somatic mosaicism might be one factor protecting from an MLS phenotype in females with a terminal Xp deletion or a sequence-level[medicaljournals.se] RETARDATION; MDFPMR Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic[mendelian.co]

  • Acrootoocular Syndrome

    EYE FINDING/MODE OF INHERITANCE/KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED/MIM SYMBOL & NUMBER REFERENCE VACTERL ASSOCIATION WITH HYDROCEPHALUS/Downward gaze of eyes/Mostly[eyewiki.org] Microtia - Congenital Ear Institute evaluates and operates hundreds of children born with a congenital ear deformity known as microtia/atresia ...[ibis-birthdefects.org] A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E ({164757.0001}) ( Davies et al., 2002 ; Pollock et al., 2003[mendelian.co] EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE VACTERL ASSOCIATION WITH HYDROCEPHALUS Downward gaze of eyes Mostly[eyewiki.aao.org]

  • Russell-Silver Syndrome

    Cases of Russell-Silver syndrome are mostly sporadic, that is, the disorder may appear in people with no known history of the disease in the family.[symptoma.com] (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] […] study, we first demonstrated that the GRB10 gene is also monoallelically expressed in human fetal brain tissues and is transcribed from the maternally derived allele in somatic-cell[ncbi.nlm.nih.gov] We also identified other transcription units from this immediate region, but all seem to be biallelically expressed when using a somatic cell hybrid assay.[ncbi.nlm.nih.gov]

    Missing: Congenital Ear Deformity
  • Smith-Magenis Syndrome

    Ocular findings in our patient include: myopia, iris nodules, loose zonules, and ectopia lentis.[ncbi.nlm.nih.gov] In order to determine the critical deletion interval responsible for the syndrome phenotype, we have examined several patients with varying deletions involving 17p11.2 by somatic[ncbi.nlm.nih.gov] Separation of chromosome 17 homologues in somatic cell hybrids and molecular studies confirmed the cytogenetic diagnoses and the fact that the mother was mosaic.[ncbi.nlm.nih.gov] Using polymerase-chain-reaction mapping of somatic cell hybrid lines, we refined the breakpoints of six deletions within these LCRs.[ncbi.nlm.nih.gov]

    Missing: Mostly Sporadic
  • Ectopia Lentis

    Ectopia lentis. Dislocated lens into the vitreous secondary to trauma. Ectopia lentis.[emedicine.com] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q12- Congenital[icd10data.com] This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.[fulgentgenetics.com] Our ability to detect minor sequence variants due to somatic mosaicism is limited.[preventiongenetics.com]

    Missing: Mostly Sporadic
  • Sotos Syndrome

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] The authors suggest that, analogous to phosphatase and tensin homolog mutations, STK11 mutations may predispose to somatic overgrowth.[ncbi.nlm.nih.gov] The phenotype is remarkably opposite to that of Sotos syndrome, suggesting a role for NSD1 in the regulation of somatic growth in humans.[ncbi.nlm.nih.gov] Genotype-phenotype correlation showed that patients with microdeletions might be more prone to congenital heart disease but less likely to have somatic overgrowth.[ncbi.nlm.nih.gov]

    Missing: Congenital Ear Deformity
  • Isolated Congenital Alacrima

    EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE VACTERL ASSOCIATION WITH HYDROCEPHALUS Downward gaze of eyes Mostly[eyewiki.aao.org] […] that are treated in this facility: Anterior uveitis Congenital glaucoma Early-onset non-syndromic cataract Early-onset partial cataract Glaucoma secondary to spherophakia/ectopia[se-atlas.de] WHO-ICD-10 version:2010 Congenital malformations, deformations and chromosomal abnormalities Congenital malformations of eye, ear, face and neck Mode of Inheritance Autosomal[cags.org.ae] C, Male infant with precocious development of the external genitalia and rapid somatic growth (infant Hercules). (Courtesy of Dr. Wellington Hung.)[oncohemakey.com]

  • CHARGE Syndrome

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] […] confirmed autosomal dominant inheritance occurred in a mildly affected mother. 15 In another, inheritance also occurred in a mother with a mild presentation attributable to somatic[nursingcenter.com] B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency.[journals.plos.org] lentis) 759.89 Menkes' 759.89 Meyer-Schwickerath and Weyers (dysplasia oculodentodigitalis) 759.89 microphthalmos (congenital) 759.89 Mieten's 759.89 Mohr's (types I and[icd9data.com]

    Missing: Mostly Sporadic

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