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105 Possible Causes for Atretic Ear Canals, Mutation in the Tumor Protein p63 Gene, Thick Wiry Hair

  • Rapp-Hodgkin Syndrome

    CAUSES General: Rapp-Hodgkin syndrome (RHS) is believed to be caused by a mutation or defect in the TP73L gene, which produces several variants of the p73-like tumor protein[health24.com] (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] The official name of the gene mutated in AEC syndrome is tumor protein 63 ( TP63 ).[rarediseases.org]

  • 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 Mutation in the Tumor Protein p63 Gene
  • Congenital Ankyloblepharon

    The official name of the gene mutated in AEC syndrome is tumor protein 63 ( TP63 ).[rarediseases.org] (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] Affected individuals usually have normal sweating capacity and typically normal teeth, but they classically have pale, brittle, slow-growing, and wiry hair with progressive[cancertherapyadvisor.com]

    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: Mutation in the Tumor Protein p63 Gene Thick Wiry Hair
  • Chudley-Rozdilsky Syndrome

    Facial anomalies may include microcephaly, thickening of the skull, hemifacial microsomia, enlarged frontal sinuses, microtia, atretic ear canal, hypertelorism, blepharoptosis[accessanesthesiology.mhmedical.com]

    Missing: Mutation in the Tumor Protein p63 Gene 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] The external auditory canal may be completely absent or incompletely atretic with further narrowing contributed to by soft tissue bands.[radiopaedia.org]

    Missing: Mutation in the Tumor Protein p63 Gene 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: Mutation in the Tumor Protein p63 Gene 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: Mutation in the Tumor Protein p63 Gene Thick Wiry Hair
  • Nager Syndrome

    Seven patients evaluated in this study had histories of early respiratory and feeding problems, micrognathia and absent velum, atretic ear canals and conductive hearing loss[ncbi.nlm.nih.gov]

    Missing: Mutation in the Tumor Protein p63 Gene Thick Wiry Hair
  • Anotia

    […] anatomy Click here to view Discussion Microtia-anotia means deformed or absent pinna with an atretic ear canal.[indianjotol.org] Microtia-anotia Definition: Deformed or absent pinna with an atretic ear canal. Most forms are associated with conductive hearing loss.[sonoworld.com] […] image showing left (a) and right (b) ear anatomy Click here to view Figure 4: Temporal bone CT scan showing bilateral, left (a) and right (b) cholestatoma and the auditory canal[indianjotol.org]

    Missing: Mutation in the Tumor Protein p63 Gene Thick Wiry Hair

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