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91 Possible Causes for Congenital Ear Deformity, Ectopia Lentis, Isolated Ectopia Lentis

  • Ectopia Lentis

    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] 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]

  • Isolated Ectopia Lentis

    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] 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]

  • Congenital Contractural Arachnodactyly

    Other phenotypes associated with the FBN1 gene include autosomal dominant ectopia lentis (displacement of the lens of the eye), thoracic aortic aneurysm and dissections (TAAD[mayomedicallaboratories.com] 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]

  • Lens Coloboma

    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] 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]

  • Marchesani-Weill Syndrome

    Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis. Mol Vis 17:3481-5,2011.[pubs.sciepub.com] 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]

  • Autosomal Recessive Isolated Ectopia Lentis 2

    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] 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] Living with What is autosomal recessive isolated ectopia lentis-2, one of the ADAMTSL4-related eye disorders?[thinkgenetic.com]

  • Isolated Congenital Sclerocornea

    Lentis 1, Isolated, Autosomal Dominant Ectopia Lentis, Familial Ectopia Lentis, Isolated Ectopia Lentis, Isolated, Autosomal Dominant ECTOL1 129600 Genetic Test Registry[ukgtn.nhs.uk] 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]

  • Goldberg-Shprintzen Syndrome

    ectopia lentis Mutations in ADAMTSL4 Not associated with other manifestations of Marfan syndrome Shprintzen-Goldberg syndrome (SGS) Unclear inheritance Dolichostenomelia[medicinman.cz] […] and often a deformity of the auricles ("crumpled ears").[aerzteblatt.de] lentis, isolated AR 11 26 BGN Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome XL 8 7 CBS Homocystinuria due to cystathionine beta-synthase deficiency AR[blueprintgenetics.com]

  • Thickened Earlobes-Conductive Deafness Syndrome

    lentis isolated Ectopia pupillae Ectopic coarctation Ectopic ossification familial type Ectopic pregnancy Ectrodactyly cardiopathy dysmorphism Ectrodactyly cleft palate syndrome[bioreference.net] Deformities Absence of the outer ear Congenital deformity or absence of the outer ear, usually on one side, sometimes on both, is often accompanied by absence of the outer-ear[britannica.com] Ectopia lentis isolated[?] Ectopia pupillae[?] Ectopic coarctation[?] Ectopic ossification familial type[?] Ectopic pregnancy Ectrodactyly cardiopathy dysmorphism[?][encyclopedia.kids.net.au]

  • Aniridia

    […] corneal pannus, optic nerve hypoplasia, absence of macular reflex, ectopia lentis, nystagmus, and photophobia, all of which generally result in poor vision.[orpha.net] It can also appear with other ocular anomalies, such as cataracts, glaucoma, corneal pannus, optic nerve hypoplasia, macular hypoplasia, or ectopia lentis.[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 › Q13- Congenital[icd10data.com]

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