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12 Possible Causes for Crumpled Ear Helices, Ectopia Lentis

  • Congenital Contractural Arachnodactyly

    We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation.[ncbi.nlm.nih.gov] We identified a mother and her two children who presented with skeletal features of MFS, and contractures, scoliosis, and a crumpled appearance to the helices of the ear,[jmg.bmj.com] 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]

  • Arthrogryposis Syndrome

    lentis, myopia, high-arched palate, relatively short neck, mitral valve prolapse, mitral regurgitation, atrial septal defect, ventricular septal defect, bicuspid aortic valve[bredagenetics.com] ear (present in the majority of patients), poorly defined conchae, prominent crura, folded helices, ectopia lentis, myopia, high-arched palate, relatively short neck, mitral[bredagenetics.com] […] micrognathia (present in about one third of patients), frontal bossing, crumpled ear (present in the majority of patients), poorly defined conchae, prominent crura, folded helices, ectopia[bredagenetics.com]

  • Atelosteogenesis Type 2

    lentis Isolated polycystic liver disease KBG syndrome Legius syndrome Lethal congenital contracture syndrome type 3 Li-Fraumeni syndrome Limited cutaneous systemic sclerosis[csbg.cnb.csic.es] Marfan syndrome without visceral involvement and with crumpled ear helices as the hallmark, due to expression of fibrillin-2 in auricular cartilage.[musculoskeletalkey.com] […] bone mass osteogenesis imperfecta Hypoparathyroidism - deafness - renal disease Inherited congenital spastic tetraplegia Isolated cytochrome C oxidase deficiency Isolated ectopia[csbg.cnb.csic.es]

  • Auriculoosteodysplasia

    lentis Aland Island eye disease Sorsby fundus dystrophy Vitreoretinal degeneration Reis-Bucklers corneal dystrophy (RBCD) Thiel-Behnke dystrophies (TBCD) Gelatinous drop-like[csirnotes.com] Marfan syndrome without visceral involvement and with crumpled ear helices as the hallmark, due to expression of fibrillin-2 in auricular cartilage.[musculoskeletalkey.com] […] disease Blepharitis Optic neuritis Optic neuropathy Axenfeld-Rieger syndrome (ARS) Duane retraction syndrome Duane-radial ray syndrome Aniridia Congenital primary aphakia Ectopia[csirnotes.com]

  • Dyssegmental Dysplasia-Glaucoma Syndrome

    Disease Type of connection Acromicric dysplasia Familial thoracic aortic aneurysm and aortic dissection Geleophysic dysplasia Isolated ectopia lentis Marfan syndrome type[csbg.cnb.csic.es] Crumpled helices and small mouth 0 *Abnormalities, Multiple *Cleft Palate *Growth Disorders *Micrognathism *Facies Fingers/abnormalities Hair/abnormalities Toes/abnormalities[reference.md] - microspherophakia - stiff joints - short stature Isolated ectopia lentis Limited cutaneous systemic sclerosis Marfan syndrome type 1 Neonatal Marfan syndrome Progeroid[csbg.cnb.csic.es]

  • Thumb Deformity - Alopecia - Pigmentation Anomaly Syndrome

    Congenital ptosis, optic atrophy, and ectopia lentis have also been reported.[disorders.eyes.arizona.edu] Marfan syndrome without visceral involvement and with crumpled ear helices as the hallmark, due to expression of fibrillin-2 in auricular cartilage.[musculoskeletalkey.com] lentis, 4 skeletal manifestations (tall stature, high arched palate, dental crowding, hyperextensible joints, pectus excavatum) Term Definition prune belly syndrome deficienct[flashcardmachine.com]

  • Cardio-Spondylo-Carpo-Facial Syndrome

    Ectopia lentis is absent.[rheumatologyadvisor.com] Marfan syndrome without visceral involvement and with crumpled ear helices as the hallmark, due to expression of fibrillin-2 in auricular cartilage.[musculoskeletalkey.com] In this context, we report a novel cysteine substitution in a patient presenting with typical MFS features but without ectopia lentis.[karger.com]

  • Craniosynostosis with Ocular Abnormalities and Hallucal Defects

    lentis Conductive hearing impairment Hypothyroidism Talipes equinovarus Nevus Ventriculomegaly Delayed eruption of teeth Brachycephaly Micropenis Skeletal dysplasia Atrial[mendelian.co] Marfan syndrome without visceral involvement and with crumpled ear helices as the hallmark, due to expression of fibrillin-2 in auricular cartilage.[musculoskeletalkey.com] Lentis OMIM:218550 Craniosynostosis with Fibular Aplasia OMIM:608279 Craniosynostosis with Ocular Abnormalities and Hallucal Defects OMIM:218670 Craniotelencephalic Dysplasia[informatics.jax.org]

  • Nasopalpebral Lipoma - Coloboma - Telecanthus Syndrome

    It may be a variant of nontraumatic (congenital) ectopia lentis, in which the zonular deficiency is more generalized. Coloboma of the ...[biomedsearch.com] D: Right ear dysplasia with overturned helix,crumpled ear and prominent helical root (railroad track ear).2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A(average axial length[docslide.net] Lentis Kozlowski Tsuruta Taki Syndrome Krauss Herman Holmes Syndrome Krieble Bixler Syndrome Langer Mesomelic Dysplasia Laplane Fontaine Lagardere Syndrome Larsen Syndromes[rgd.mcw.edu]

  • Autosomal Dominant Mental Retardation Type 5

    Arachnodactyly, dissecting aortic aneurysms, ectopia lentis (subluxation of lens), mitral valve prolapse.[kumc.edu] ]; Crumpled ear (76%); Poorly defined conchae; Prominent crura; Folded helices; [Eyes]; Ectopia lentis; Myopia; [Mouth]; High-arched palate (28%); [Neck]; Relatively short[findzebra.com] Spherophakia (congenital bilateral anomaly in which the lenses of the eye are small, spherical and prone to subluxation Ectopia lentis (partial displacement of the lens) which[tsbvi.edu]

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