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1,486 Possible Causes for Congenital Ear Deformity, Ectopia Lentis, Hypoplastic Semicircular Canals

  • 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] semicircular canals Minor criteria urogenital abnormalities kidney duplex kidney renal hypoplasia / solitary kidney penis hypospadias penile agenesis scrotum/testicles bifid[radiopaedia.org] All patients had a hypoplastic mastoid, semicircular canal aplasia, and had some degree of cochlear dysplasia.[ncbi.nlm.nih.gov]

  • 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]

    Missing: Hypoplastic Semicircular Canals
  • Acrootoocular Syndrome

    Congenital lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal[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] The semicircular canals may be hypoplastic or absent. Mondini defect of the cochlea is a characteristic finding.[entokey.com]

  • 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] , arachnodactyly, scoliosis, and a distinct "crumpled ear" deformity.[ncbi.nlm.nih.gov]

    Missing: Hypoplastic Semicircular Canals
  • 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] […] structures to a hypoplastic lateral semicircular canal.[radiologyassistant.nl]

  • 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]

    Missing: Hypoplastic Semicircular Canals
  • 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] Congenital lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.org]

    Missing: Hypoplastic Semicircular Canals
  • 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]

    Missing: Hypoplastic Semicircular Canals
  • 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]

    Missing: Hypoplastic Semicircular Canals
  • 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]

    Missing: Hypoplastic Semicircular Canals

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