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232 Possible Causes for Atretic Ear Canals, Congenital Non-Progressive Myopathy, Thick Wiry Hair

  • Chudley-Rozdilsky Syndrome

    The only two patients ever described suffered from a congenital non-progressive myopathy of type multiminicore myopathy, severe mental retardation, short stature and facial[symptoma.com] Facial anomalies may include microcephaly, thickening of the skull, hemifacial microsomia, enlarged frontal sinuses, microtia, atretic ear canal, hypertelorism, blepharoptosis[accessanesthesiology.mhmedical.com] Congenital nonprogressive myopathy with Moebius and Robin sequences - See Carey-Fineman-Ziter syndrome Congenital non-progressive peripheral neuropathy with arthrogryposis[elbiruniblogspotcom.blogspot.com]

    Missing: Thick Wiry Hair
  • Rapp-Hodgkin Syndrome

    (hypotrichosis) Can be brittle, coarse or wiry with pili torti Patchy alopecia (lack of hair) Eyebrows, eyelashes and body hair may also be sparse or absent.[nfed.org] Nails Small Hyperconvex Thick Hyper-ridging Missing Eyes Eyelid fusion (ankyloblepharon) Corneal erosions Blepharitis (chronic inflammation of the eyelid) Conjunctivitis(pink[nfed.org] […] in AEC may mimic epidermolysis bullosa (EB) or a collodian baby (skin that resembles a yellow, tight and shiny film) or dried collodion (sausage skin) Hair Sparse, fine hair[nfed.org]

    Missing: Congenital Non-Progressive Myopathy
  • Craniofrontonasal Dysplasia

    wiry hair, and occasionally cleft lip and/or palate.[genedx.com] wiry hair with orbital asymmetry and strabismus. 5 The extracranial features include multiple skeletal malformations, such as sloping shoulders, dysplastic clavicles, thoracic[ncbi.nlm.nih.gov] , wiry, and curly hair at 2-3 months Defects in formation of toes and fingers, broad fingers and toes, curved last finger Increased webbing in between the fingers and toes[dovemed.com]

    Missing: Atretic Ear Canals Congenital Non-Progressive Myopathy
  • Central Core Disease

    Register A NEW CONGENITAL NON-PROGRESSIVE MYOPATHY - 24 Hours access EUR 36.00 GBP 28.00 USD 45.00 Rental This article is also available for rental through DeepDyve.[doi.org]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Amelo-Onycho-Hypohidrotic Syndrome

    […] bile acid synthesis defect type 4 Congenital blindness due to retinal non-attachment Congenital brain dysgenesis due to glutamine synthetase deficiency Congenital cataract[csbg.cnb.csic.es] In infancy, scalp hair is wiry, brittle, patchy, and pale; progressive hair loss may lead to total alopecia by puberty.[vivavoceoralmedicineradiology.com] - hypertrophic cardiomyopathy - mitochondrial myopathy Congenital cataract - microphthalmia Congenital cataract - progressive muscular hypotonia - deafness - developmental[csbg.cnb.csic.es]

    Missing: Atretic Ear Canals
  • Ring Chromosome 18

    Affected individuals may also have low-set, malformed (dysplastic) ears and/or narrow (stenotic) or absent (atretic) ear canals, with associated hearing impairment.[rarediseases.org]

    Missing: Congenital Non-Progressive Myopathy Thick Wiry Hair
  • Congenital Aural Atresia

    Microtia-anotia Definition: Deformed or absent pinna with an atretic ear canal. Most forms are associated with conductive hearing loss.[sonoworld.com] Type C (total) atresia includes all cases with a totally atretic ear canal, but a well-pneumatized tympanic cavity.[entokey.com] In the absence of an ear canal, the atretic plate is the bony region just lateral to the middle ear space.[emedicine.medscape.com]

    Missing: Congenital Non-Progressive Myopathy Thick Wiry Hair
  • Ring Chromosome 1

    Affected individuals may also have low-set, malformed (dysplastic) ears and/or narrow (stenotic) or absent (atretic) ear canals, with associated hearing impairment.[rarediseases.org]

    Missing: Congenital Non-Progressive Myopathy Thick Wiry Hair
  • Congenital Fiber-Type Disproportion Myopathy

    Congenital myopathy with type 1 fiber predominance (CMT1P) is also a distinct entity of congenital myopathy characterized by non-progressive childhood neuromuscular disorders[ncbi.nlm.nih.gov] ; the disease course is variable but most are non-progressive and some patients will have normal life expectancies.[sinoemedicalassociation.org] Congenital myopathy with fiber type disproportion (CFTD) is an established disorder of congenital myopathy.[ncbi.nlm.nih.gov]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Microtia

    […] of the atretic external ear is undertaken, knowledge of the middle ear structures including ossicles, facial canal, grade of pneumatization of atretic plate, and mastoid[ijri.org] Keywords: External auditory canal, high-resolution computed tomography, microtia, middle ear anomalies, temporal bone How to cite this article: Patil AR, Bhalla A, Gupta P[ijri.org] Preoperative assessment of these as well as other abnormalities including atretic plate pneumatization and aberrant facial and carotid canal with HRCT imaging of temporal[ijri.org]

    Missing: Congenital Non-Progressive Myopathy Thick Wiry Hair