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898 Possible Causes for Ectopia Lentis, Hearing Impairment

  • 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[] An audiological evaluation should be performed in all children with language impairment, including MWS patients [ 19, 34 ].[] Other clinical manifestations of Marfan syndrome such as ectopia lentis, aortic aneurysm formation and skeletal features may also be seen in ectopia lentis syndrome, bicuspid[]

  • 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[] impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 micrognathia 60 33 frequent (33%) Frequent[] Congenital lens dislocation AD FBN1 #129600 ECTOPIA LENTIS, ISOLATED Lens dislocation AR ADAMTSL4 #225100 EHLERS-DANLOS SYNDROME Myopia, ectopia lentis, blue sclera, epicanthal[]

  • Oculo-Palato-Cerebral 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[] impairment Niemann-Pick disease type A Niemann-Pick disease type C Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, juvenile neurologic onset[] […] of hearing 744.02 biliary duct (common) or passage 751.61 bladder 753.8 brain 742.1 gyri 742.2 specified part 742.2 breast (areola) 611.82 bronchus (tree) 748.3 cardiac 746.89[]

  • Microphthalmos

    […] pupillae Hypoplasia of the iris Buphthalmos Congenital glaucoma Anterior segment developmental abnormality Anterior synechiae of the anterior chamber Ectopia lentis Corneal[] Eleven individuals have extra ocular findings (i.e. cardiac defects, autism, septo-optic dysplasia, and hearing impairment), which indicate a syndromic condition.[] Hearing impairment may be present in some cases. The teeth may be widely spaced or abnormally crowded.[]

  • Thickened Earlobes-Conductive Deafness Syndrome

    lentis isolated Ectopia pupillae Ectopic coarctation Ectopic ossification familial type Ectopic pregnancy Ectrodactyly cardiopathy dysmorphism Ectrodactyly cleft palate syndrome[] Syndrome ... long ears G Glue ear ... partial hearing loss, hearing loss during upper respiratory infections, intermittent hearing loss, hearing deterioration H Hangover[] Ectopia lentis isolated[?] Ectopia pupillae[?] Ectopic coarctation[?] Ectopic ossification familial type[?] Ectopic pregnancy Ectrodactyly cardiopathy dysmorphism[?][]

  • Autosomal Dominant Larsen Syndrome

    lentis Isolated polycystic liver disease KBG syndrome Legius syndrome Lethal congenital contracture syndrome type 3 Li-Fraumeni syndrome Limited cutaneous systemic sclerosis[] […] deformities Some cases of Larsen syndrome manifests the following less common symptoms along with the fundamental symptoms: * Cleft palate * Abnormalities in the heart * Hearing[] This is in contrast to ectopia lentis in homocystinuria, which is usually downward and into the anterior chamber.[]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    lentis-microspherophakia-stiff joints-short stature syndrome Glaucoma secondary to spherophakia/ectopia lentis and megalocornea Glaucoma-sleep apnea syndrome GLB1 deficiency[] […] loss. 0000684 Gingival fibromatosis 0000169 Gingival overgrowth Gum enlargement 0000212 Sensorineural hearing impairment 0000407 Percent of people who have these symptoms[] lentis Infantile spasms broad thumbs Tardive dyskinesia Microphthalmia associated with colobomatous cyst Mucopolysaccharidosis type IVA Epidermolysis bullosa Medium-chain[]

  • Stroke

    Patients have a marfanoid habitus, ectopia lentis, and myopia and generally have intellectual disability. [29] Thromboembolic events are the most common cause of death for[]

  • Coxoauricular Syndrome

    Lentis Databases Craniosynostosis Fibular Aplasia Databases Craniosynostosis Mental Databases Craniosynostosis Mental Retardation Clefting Syndrome Databases Craniosynostosis[] The mothers left ear was normal, but on the right (Fig. 6A), she had severe microtia was absence of the external auditory meatus and canal and corresponding hearing impairment[] Impairment, Cleft Lip/Palate, and/or Mental Retardation; COB1 OMIM:120300 Coloboma of Macula OMIM:216800 Coloboma of Macula and Skeletal Anomalies OMIM:120400 Coloboma of[]

  • Crouzon Syndrome

    Other associations are aniridia, blue sclera, cataract, coloboma, ectopia lentis and optic nerve hypoplasia. No medical treatment exists for craniosynostosis.[] A 24-year-old woman visited our department for evaluation of persistent hearing impairment and absence of an external auditory canal from birth.[] There also have been rare occurances of nystagmus, iris coloboma, aniridia, anisocoria, microcornea, megalocornea, cataract, ectopia lentis, blue sclera, glaucoma and luxation[]

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