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

  • Congenital Contractural Arachnodactyly

    We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation.[] […] contractural deformities of the knees and elbows.[] Aase Smith Syndrome Achard syndrome Alopecia Contractures Dwarfism Mental Retardation Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation Arthrogryposis-like Hand[]

  • Smith-Magenis Syndrome

    Ocular findings in our patient include: myopia, iris nodules, loose zonules, and ectopia lentis.[] Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct facial[] Since then, mental retardation, particularly in terms of language development, became increasingly more obvious.[]

  • 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[] Finally, the combination of malformations in CHARGE syndrome strongly supports the view that this multiple congenital anomalies/mental retardation syndrome is a polytopic[] Mental retardation can be caused by copy number variations (deletions, insertions, duplications), ranging in size from 1 kb to several megabases.[]

  • 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[] […] and often a deformity of the auricles ("crumpled ears").[] Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family[]

  • Aniridia

    It can also appear with other ocular anomalies, such as cataracts, glaucoma, corneal pannus, optic nerve hypoplasia, macular hypoplasia, or ectopia lentis.[] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q13- Congenital[] Here, we present mutation analysis of a patient with aniridia, autism and mental retardation.[]

  • Ectopia Lentis

    Ectopia lentis. Dislocated lens into the vitreous secondary to trauma. Ectopia lentis.[] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q12- Congenital[] Retardation Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus Scaphocephaly, Maxillary Retrusion, and Mental Retardation Sensenbrenner syndrome Shprintzen[]

  • Oculo-Osteo-Cutaneous Syndrome

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

  • Isolated Congenital Sclerocornea

    lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea[] ., 1965), polydactyly, lacunae of the parietal bones, cranial dystrophies, deformities of the ear and congenital cerebellar symptoms (Goldstein & Cogan, 1962).[] Retardation, And Dysequilibrium Syndrome 1 Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Congenital, And Mental Retardation[]

  • 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.[] […] and often a deformity of the auricles ("crumpled ears").[] Mnemonic-6S – S- S pherophakia(microspherophakia-round and small lens) S-S hort Stature S-Short and Stubby fingers(brachydactyly) S-S tupid(mental retardation) S-S ubluxation[]

  • 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[] Microtia - Congenital Ear Institute evaluates and operates hundreds of children born with a congenital ear deformity known as microtia/atresia ...[] Annales de Genetique 27(2): 83-87, 1984 Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.[]

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