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47 Possible Causes for Ear Deformity, Folded Helix, Myopia

  • Down Syndrome

    Nystagmus was related to myopia and esotropia, and to heart disease and heart operations.[] A 9-year-old girl complained of bilateral visual disturbance during a follow-up examination for myopia and strabismus.[] Hyperopia (36.9%) was the most frequent refractive error in the group, followed by astigmatism (29.2%) and myopia (24.6%).[]

  • Marfan Syndrome

    Most affected individuals have "crumpled" ears that present as a folded upper helix of the external ear and most have contractures of major joints (knees and ankles) at birth[] The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of[] Most affected individuals have "crumpled" ears, with a folded upper helix, and most have contractures of knees and ankles at birth that usually improve with time.[]

  • Congenital Contractural Arachnodactyly

    Most affected individuals have "crumpled" ears that present as a folded upper helix of the external ear and most have contractures of major joints (knees and ankles) at birth[] " deformity.[] Individuals with Marfan syndrome have lens subluxation, high myopia, and progressive aortic root dilation not characteristic of CCA; they also lack the "crumpled" ears and[]

  • Ear Deformity

    In the mild form, the helix alone is involved. It can be only a slightly broad rim, but more commonly the helix is flattened or folded along the upper edge.[] Abstract The common characteristics of the crumpled-ear deformity, the steps for surgical correction, and the authors' experience are described in this article.[] Myopia runs in the family and I was worried that my child might have problem wearing spectacles in the future because of the shape of his ear,” says the 40-year-old engineer[]

  • Stickler Syndrome Type 3

    Salient clinical features include the following: Crumpled ears, with a folded upper helix Arachnodactyly Congenital contractures of small and large joints Progressive kyphoscoliosis[] Eye and ear pathologies with skeletal deformities are seen in this syndrome.[1,2] Case Report 32 year old female with second degree consanguineous marriage, G2 P1 L1 was registered[] […] epiphyses, overtubulation of long bones with metaphysial widening, flattened vertebral bodies, pelvic bone abnormalities, hypermobility of joints, cleft palate, progressive myopia[]

  • Kaufman Oculocerebrofacial Syndrome

    Ear features include a cup shape with hypoplastic lobe and folded helix, stenosis of the external meatus, and preauricular tags.[] Auricular malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Astigmatism Abnormal curving of the cornea or lens of the eye 0000483 Autosomal recessive[] Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia[]

  • Anotia

    […] is the folded over outside edge of the ear Intertragal notch is the space between the tragus and antitragus Lobe (lobule) may be attached or free, based on genetics Scapha[] Include flattening of the facial profile, cleft of the palate, ocular changes (myopia/retinal detachment/cataracts), and arthropathy ...[] Congenital Ear Deformity Correction Policy Treatment for Congenital Ear Deformity correction is not routinely funded by the CCG and is subject to this restricted policy.[]

  • External Auditory Canal Aplasia/Hypoplasia

    - 6.7.3 Over-folded ear helix, lop ear Xxx XXX This LDD category comprises two different entities.Lop ears (HP:0000394) and Overfolded helices (HP:0000396) 6.7.4 Pits of[] deformity), Ms Rebecca Stockwell from The University of Queensland for her research into the spread of airborne diseases in hospitals through coughing, Mr Eric Wu from The[] [HPO:curators] Show HP:0000535 Sparse eyebrows Show HP:0000545 Myopia Show HP:0000561 Absent eyelashes "Lack of eyelashes."[]

  • Cleft Palate

    Clinically observed mutations to the PHF8 gene cluster in exons encoding for the double stranded β-helix fold and will therefore disrupt catalytic activity.[] […] center provides comprehensive care for children and treats conditions such as: Cleft lip and palate Nasal speech caused by Velopharyngeal insufficiency Genetic syndromes Ear[] […] year-old dysmorphic girl with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome consisting mainly of severe mental retardation, cleft palate, and high myopia[]

  • Branchio-Oculo-Facial Syndrome

    Over-folded or malformed ears Sensorineural hearing loss Supra-auricular sinuses Limbs Abnormality Clinodactyly Show images Polydactyly Show images Neurologic Abnormality[] […] of both the external and middle ear structures.[] […] hypertelorism, ptosis, upslanting palpebral fissures, strabismus, telecanthus, microphthalmia, anophthalmia, iris and retinal coloboma, cataract, lacrimal duct obstruction, myopia[]

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