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159 Possible Causes for Congenital Deafness, Congenital Ear Deformity, Ectopia Lentis

  • 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] CHARGE syndrome is one of the leading causes of congenital deafness and blindness in children.[ncbi.nlm.nih.gov] This syndrome is recognised as being the major cause of congenital deafness and blindness. In infected children, neurological disorders increase with age.[icm-institute.org]

  • Smith-Magenis Syndrome

    Ocular findings in our patient include: myopia, iris nodules, loose zonules, and ectopia lentis.[ncbi.nlm.nih.gov] A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.[doi.org] A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17 . Nat Genet 1995; 9 : 86–91. 35.[nature.com]

  • 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] Syndrome Camptodactyly Joint Contractures and Facial Skeletal Dysplasia Congenital Contractural Arachnodactyly CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND[rgd.mcw.edu]

  • 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] Waardenburg (congenital deafness, white forelock and depigmented, joined eyebrows, heterochromia iridum, broad nasal bridge) and Smith-Lemli-Opitz (micrognathia, microcephaly[pediatricneurologybriefs.com]

  • 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] PubMed Central View Article PubMed Google Scholar Harboyan G, Mamo J, Kaloustian V, der Karam F: Congenital corneal dystrophy, progressive sensorineural deafness in a family[ojrd.biomedcentral.com]

  • 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] ) 759.89 Anomaly, anomalous (congenital) (unspecified type) 759.9 organ specified type NEC adrenal (gland) 759.1 alimentary tract (complete) (partial) 751.8 ankle 755.69 anus[icd9data.com]

  • 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] Other complications include prematurity, mental retardation, neurosensory deafness, congenital heart disease, growth retardation, hepatosplenomegaly, interstitial pneumonitis[clinicalgate.com]

  • High Myopia-Sensorineural Deafness Syndrome

    lentis Infantile spasms broad thumbs Tardive dyskinesia Microphthalmia associated with colobomatous cyst Mucopolysaccharidosis type IVA Epidermolysis bullosa Medium-chain[checkrare.com] Renal Ultrasound If syndromal features: preauricular pits or sinuses, deformity of ear, branchial cleft or cysts; Mondini defect on imaging; multiple congenital abnormalities[starship.org.nz] Ann ORL 117(7) 474-500 Non-Inherited Congenital Deafness These types of abnormalities account for roughly 20% of congenital deafness, the remainder being genetic in origin[dizziness-and-balance.com]

  • Syndromic Microphthalmia Type 10

    Congenital lens dislocation AD FBN1 #129600 ECTOPIA LENTIS, ISOLATED Lens dislocation AR ADAMTSL4 #225100 EHLERS-DANLOS SYNDROME Myopia, ectopia lentis, blue sclera, epicanthal[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] Some individuals with WS are also affected by congenital deafness.[rarediseases.org]

  • Oculo-Osteo-Cutaneous Syndrome

    Lentis Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation FACES Syndrome fibrochondrogenesis Foveal Hypoplasia and Anterior Segment Dysgenesis[rgd.mcw.edu] Absence of, with Taurodontia and Sparse Hair Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities Thumb Deformity and Alopecia Trichodental[nfed.org] lentis Bloom syndrome Blue cone monochromatism Borjeson-Forssman-Lehmann syndrome Bradyopsia Brittle cornea syndrome Brown syndrome CADASIL Carney complex Cat eye syndrome[familydiagnosis.com]

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