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186 Possible Causes for Congenital Ear Deformity, Ear Deformity, Ectopia Lentis

  • 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] 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]

  • 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] Most patients have some deformities of the ear, such as asymmetric ears, small or absent earlobes, malformed middle ear bones, malformed cochleae, and small or absent semicircular[medschool.lsuhsc.edu] Abnormalities: Ear abnormalities affect 95 to 100 percent of individuals have deformities of the outer ear which can be visualized 60 to 90 percent of people also experience[verywell.com]

  • Smith-Magenis Syndrome

    Ocular findings in our patient include: myopia, iris nodules, loose zonules, and ectopia lentis.[ncbi.nlm.nih.gov] To our knowledge this is the first reported case of SMS in the Caribbean basin and the first case that report ectopia lentis in SMS.[ncbi.nlm.nih.gov]

  • 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] " deformity.[ncbi.nlm.nih.gov]

  • Malformations of the Auditory Ossicles

    Marfan's - AD, mixed HL, scoliosis, arachnodactyly, ectopia lentis, cardiovascular abnormalities.[en.wikibooks.org] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q16- Congenital[icd10data.com] Congenital perilymph fistula This may occur, linking the perilymphatic space of the inner ear to the middle-ear cavity. There are often associated deformities.[patient.info]

  • Lens Coloboma

    We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye.[ncbi.nlm.nih.gov] 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] Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome Case Report Abstract A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan[egms.de]

  • Isolated Congenital Sclerocornea

    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] […] lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears.[profiles.stanford.edu]

  • Isolated Ectopia Lentis

    We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance.[ncbi.nlm.nih.gov] 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] Isolated ectopia lentis usually becomes apparent in childhood. The lens may drift further off-center over time. Vision problems are common in isolated ectopia lentis .[ghr.nlm.nih.gov]

  • Marchesani-Weill Syndrome

    Simple dominant ectopia lentis. Pathogenic variants in FBN1 have been identified in some families. Inheritance is autosomal dominant. Ectopia lentis and pupilae.[ncbi.nlm.nih.gov] […] and often a deformity of the auricles ("crumpled ears").[aerzteblatt.de] Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis.[ncbi.nlm.nih.gov]

  • Goldberg-Shprintzen Syndrome

    […] age 20 years or older [1] Ectopia lentis syndrome Autosomal dominant Ectopia lentis Variable skeletal manifestations reminiscent of the Marfan syndrome Heterozygous mutations[medicinman.cz] […] and often a deformity of the auricles ("crumpled ears").[aerzteblatt.de] While the individual reported had ectopia lentis (typical for Marfan syndrome and not SGS), she also had craniosynostosis, strabismus, abnormal ears, hypotonia, and foot deformities[ncbi.nlm.nih.gov]

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