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165 Possible Causes for Congenital Ear Deformity, Craniosynostosis, Ectopia Lentis

  • Smith-Magenis Syndrome

    Ocular findings in our patient include: myopia, iris nodules, loose zonules, and ectopia lentis.[ncbi.nlm.nih.gov] Gorlin, Craniosynostosis update 1987, American Journal of Medical Genetics, 31, S4, (99-148), (2005).[oadoi.org] 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]

  • 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] Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Rozin Hertz Goodman Syndrome Scoliosis, Arachnodactyly, and Blindness Shprintzen Golberg Craniosynostosis[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] Geneviève Sports (France) SGS Stockport Grammar School (United Kingdom) SGS Slough Grammar School SGS South Georgia and the Islands (ISO Country code) SGS Shprintzen-Goldberg Craniosynostosis[acronyms.thefreedictionary.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] These findings need to be confirmed in further cases with craniosynostosis and ectopia lentis.[ncbi.nlm.nih.gov]

  • 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] Systemic Features: Related family members have been observed to have polydactyly and craniosynostosis but without dislocated lenses.[disorders.eyes.arizona.edu]

  • 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] * Craniosynostosis contractures cleft * Craniosynostosis exostoses nevus epibulbar dermoid * Craniosynostosis fibular aplasia * Craniosynostosis Fontaine type * Craniosynostosis[medicalgeek.com]

  • Gorlin-Chaudhry-Moss 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] Absence of, with Taurodontia and Sparse Hair Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities Thumb Deformity and Alopecia Trichodental[nfed.org] [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal[ncbi.nlm.nih.gov]

  • Saethre-Chotzen Syndrome

    A point of difference from Marfan syndrome is that ectopia lentis does not occur. Skeletal manifestations include bowed long bones, metaphy- Fig. 1.12.[rrnursingschool.biz] Skeletal deformities may require CT and MRI scans as well as x-rays. Cardiac assessment, including echocardiography, for congenital heart disease.[natureblind.blogspot.com] Furthermore, craniosynostosis was not present at birth or at the age of 4 months.[ncbi.nlm.nih.gov]

  • 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-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.[rarediseases.org] lentis) 759.89 Menkes' 759.89 Meyer-Schwickerath and Weyers (dysplasia oculodentodigitalis) 759.89 microphthalmos (congenital) 759.89 Mieten's 759.89 Mohr's (types I and[icd9data.com]

  • 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] Apert syndrome (Medical Encyclopedia) Cleidocranial dysostosis (Medical Encyclopedia) Craniosynostosis (Medical Encyclopedia) Craniosynostosis repair (Medical Encyclopedia[icdlist.com]

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