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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.[dx.doi.org] A 9-year-old girl complained of bilateral visual disturbance during a follow-up examination for myopia and strabismus.[ncbi.nlm.nih.gov] Hyperopia (36.9%) was the most frequent refractive error in the group, followed by astigmatism (29.2%) and myopia (24.6%).[dx.doi.org]

  • 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[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] 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.[ncbi.nlm.nih.gov]

  • 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[ncbi.nlm.nih.gov] " deformity.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov]

  • 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.[plasticsurgery4u.com] Abstract The common characteristics of the crumpled-ear deformity, the steps for surgical correction, and the authors' experience are described in this article.[ncbi.nlm.nih.gov] 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[youngparents.com.sg]

  • 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[emedicine.medscape.com] 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[jpgo.org] […] epiphyses, overtubulation of long bones with metaphysial widening, flattened vertebral bodies, pelvic bone abnormalities, hypermobility of joints, cleft palate, progressive myopia[medical-dictionary.thefreedictionary.com]

  • Kaufman Oculocerebrofacial Syndrome

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

  • 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[craniofacialteamtexas.com] Include flattening of the facial profile, cleft of the palate, ocular changes (myopia/retinal detachment/cataracts), and arthropathy ...[ibis-birthdefects.org] 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.[bristolccg.nhs.uk]

  • 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[compbio.charite.de] 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[medical-dictionary.thefreedictionary.com] [HPO:curators] Show HP:0000535 Sparse eyebrows Show HP:0000545 Myopia Show HP:0000561 Absent eyelashes "Lack of eyelashes."[manteia.igbmc.fr]

  • 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.[doi.org] […] center provides comprehensive care for children and treats conditions such as: Cleft lip and palate Nasal speech caused by Velopharyngeal insufficiency Genetic syndromes Ear[boystownhospital.org] […] 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[ncbi.nlm.nih.gov]

  • 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[datagenno.com] […] of both the external and middle ear structures.[ipfs.io] […] hypertelorism, ptosis, upslanting palpebral fissures, strabismus, telecanthus, microphthalmia, anophthalmia, iris and retinal coloboma, cataract, lacrimal duct obstruction, myopia[accessanesthesiology.mhmedical.com]

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