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337 Possible Causes for Atresia of the External Auditory Canals, Mutation in the LMBR1 Gene, Syndactyly between Adjacent Toes

  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] […] of external auditory canal Congenital atrophy of optic nerve Congenital blepharophimosis Congenital blepharophimosis Congenital coloboma of iris Congenital intrauterine infection-like[icdlist.com] […] and optic nerve problems, among other symptoms Hypopituitarism (a condition in which the pituitary gland underproduces certain hormones) Polydactyly (extra fingers and/or toes[brighthub.com]

    Missing: Mutation in the LMBR1 Gene
  • Microtia

    external auditory canals, followed by fitting of bilateral canal-type hearing aids.[ncbi.nlm.nih.gov] […] ear) with atresia of the external auditory canal - complete hypoplasia of the auricle without atresia of the external auditory canal Epidemiology Based on analyses of large[journalofethics.ama-assn.org] CONCLUSION: Each of eight patients with bilateral microtia and atresia underwent bilateral reconstruction of the auricles and external auditory canals and were fitted bilateral[ncbi.nlm.nih.gov]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Craniosynostosis Type 3

    BACKGROUND: Though the foramen magnum (FM) is often altered in complex craniosynostosis, no study analysed the FM dimensions in patients with brachycephaly specifically. PATIENTS AND METHODS: We measured the FM area, sagittal and transverse diameters on preoperative CT scans in patients with bicoronal synostosis[…][ncbi.nlm.nih.gov]

    Missing: Atresia of the External Auditory Canals Mutation in the LMBR1 Gene
  • Congenital Aural Atresia

    External auditory canal atresia (EACA) is characterized by complete or incomplete bony atresia of the external auditory canal (EAC) and, especially when seen in the setting[radiopaedia.org] Crouzon syndrome, characterised by bilateral atresia of the external auditory canal, inherited in an autosomal dominant manner..[en.wikipedia.org] CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity. {ECO:0000269 PubMed:22152683}.[genecards.org]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Syndactyly

    Type III results from mutation in the gene encoding GJA1. Mutations in gene that encodes for LMBR1 caused type IV.[symptoma.com] Clinical Information A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[icd9data.com] Analysis of three candidate genes, LMBR1, SHH and ZRS, failed to identify any pathogenic mutations.[dx.doi.org]

    Missing: Atresia of the External Auditory Canals
  • Isolated Congenital Auditory Ossicle Malformation

    There was no fibrous or bony atresia in this patient 2.2.2 Atresia of the External Auditory Canal Atresia of the EAC can be membranous or bony.[radiologykey.com] […] infection or irritation of the outer ear Exostoses, abnormal growth of bone within the ear canal Tumor of the ear canal Congenital stenosis or atresia of the external auditory[en.wikipedia.org] External auditory meatus atresia [ 5, 6 ] Congenital atresia of the external auditory canal is caused by a failure of canalisation of the epithelial plug portion of the first[patient.info]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Malformations of the Auditory Ossicles

    […] of the external auditory canal (EAC) has been made since the beginning of the 21st century.[books.google.de] There was no fibrous or bony atresia in this patient 2.2.2 Atresia of the External Auditory Canal Atresia of the EAC can be membranous or bony.[radiologykey.com] Meatotimpanoplasty in patients with microtia and atresia of the external auditory canal. Lapchenko.[iliveok.com]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Goldenhar Syndrome

    […] of the external auditory canal), craniofacial deformities (cleft face, cleft lip, cleft palate, macrostomia, bifid tongue, hypoplasia of the mandible, hypoplasia of the maxilla[ncbi.nlm.nih.gov] A remarkable hemifacial microsomia led to further detailed computed tomographic examination especially of the petrous bone revealing a total bony atresia of the external auditory[ncbi.nlm.nih.gov] The side with microsomia may have a malformed external auricle, preauricular tags, pretragal fistulas, and microtia or even atresia of the external auditory canal.[disorders.eyes.arizona.edu]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Acrootoocular Syndrome

    […] of the external auditory canal ; Autosomal recessive inheritance ; Blepharophimosis ; Delayed eruption of teeth ; Delayed skeletal maturation ; Dental malocclusion ; Downslanted[mousephenotype.org] […] of the external auditory canal 60 33 frequent (33%) Frequent (79-30%) HP:0000413 24 short metacarpal 60 33 frequent (33%) Frequent (79-30%) HP:0010049 25 abnormality of earlobe[malacards.org] […] of the external auditory canal with deafness of left ear, abnormality of sternoclediomastoid muscle on left side, short neck, webbing of the neck [Figure 2] , and webbing[indianjotol.org]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Adactyly of Foot

    […] of the external auditory canal Hypoplastic iliac wing Thin ribs X-linked dominant inheritance Death in infancy Platyspondyly Short philtrum Hyperkeratosis Intellectual disability[mendelian.co] Disease-causing mutations are located in intron 5 of LMBR1.[uniprot.org] , mild Choanal atresia Laryngomalacia Absent tibia Abnormality of the metacarpal bones Preaxial foot polydactyly Abnormality of the nose Patellar aplasia Abnormality of the[mendelian.co]

    Missing: Syndactyly between Adjacent Toes