Create issue ticket

171 Possible Causes for Hearing Impairment, Sloping Shoulders

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia).[orpha.net] Sensorineural hearing loss is caused by an impaired ability of the auditory nerves to transmit sensory input to the brain.[rarediseases.org] shoulders ; Hypergonadotropic hypogonadism ; Intellectual disability ; Lipodystrophy ; Mitral regurgitation ; Ptosis ; Retrognathia ; Short clavicles Associated Genes LMNA[mousephenotype.org]

  • CHARGE Syndrome

    Although certain clinical issues (scapular winging, sloping shoulder, Sprengel's deformity, kyphosis and scoliosis) which could be related to abnormalities in musculoskeletal[ncbi.nlm.nih.gov] His mother was short and had hearing impairment, choanal atresia, and a coloboma.[ncbi.nlm.nih.gov] Feature Includes Frequency Chronic Ear Problems Lots of infections, fluid in the ears, PE tubes until teens 85% Sloping Shoulders Underdeveloped shoulder muscles, small or[chargesyndrome.org]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    shoulders Micrognathia Convex nasal ridge Abnormal facial shape Prominent forehead Onycholysis Cataract Infertility Acrania Reduced number of teeth Conductive hearing impairment[mendelian.co] […] loss. 0000684 Gingival fibromatosis 0000169 Gingival overgrowth Gum enlargement 0000212 Sensorineural hearing impairment 0000407 Percent of people who have these symptoms[rarediseases.info.nih.gov] […] is not available through HPO Autosomal dominant inheritance 0000006 Progressive sensorineural hearing impairment 0000408 Showing of 6 Last updated: 5/1/2019 The exact, underlying[rarediseases.info.nih.gov]

  • Microphthalmia Type Lenz

    Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated[ncbi.nlm.nih.gov] Referral to services for the visually impaired is recommended.[ncbi.nlm.nih.gov] Long cylindric thorax with sloping, narrow shoulders, underdeveloped clavicles, or thinning of the lateral third of the clavicles on x-ray as well as kyphoscoliosis and exaggerated[ncbi.nlm.nih.gov]

  • Baraitser-Winter Syndrome 1

    Reduction of the upper limb girdle muscle bulk variably affects many patients, and contributes to the appearance of narrow, sloping shoulders ( Figure 4 ).[doi.org] Roux, Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients, Scientific Reports, 10.1038/s41598-017-16846-9, 7, 1,[doi.org] impairment Rendtorff, ND; Zhu, M; Fagerheim, T A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26) Wijk, E; Krieger, E; Kemperman[deepdyve.com]

  • Oculo-Palato-Cerebral Syndrome

    Note the slender neck and the sloping shoulders. 416 F R Y D M A N E T A L focal atrophy at the left temporal lobe and moderate ventricular dilatation. Flg. 2.[myslide.es] impairment Niemann-Pick disease type A Niemann-Pick disease type C Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, juvenile neurologic onset[se-atlas.de] […] of hearing 744.02 biliary duct (common) or passage 751.61 bladder 753.8 brain 742.1 gyri 742.2 specified part 742.2 breast (areola) 611.82 bronchus (tree) 748.3 cardiac 746.89[icdlist.com]

  • Acrootoocular Syndrome

    shoulders, and nipple anomalies Typical CHARGE syndrome 4 Major criteria or 3 Major 3 Minor Probable/possible CHARGE syndrome One or two major several minor features The[entokey.com] impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 micrognathia 60 33 frequent (33%) Frequent[malacards.org] […] teeth ; Delayed skeletal maturation ; Dental malocclusion ; Downslanted palpebral fissures ; Epicanthus ; Failure to thrive ; Finger syndactyly ; Growth hormone deficiency ; Hearing[mousephenotype.org]

  • Microphthalmos

    These may include a sideways and front-to-back curvature of the spine (kyphoscoliosis), narrow and/or sloping shoulders, underdeveloped collarbones (hypoplastic clavicles)[rarediseases.org] Eleven individuals have extra ocular findings (i.e. cardiac defects, autism, septo-optic dysplasia, and hearing impairment), which indicate a syndromic condition.[iovs.arvojournals.org] ., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and[ncbi.nlm.nih.gov]

  • Blue Sclera

    shoulders, and mild intellectual disability (summary by Pohl et al., 2013).[ncbi.nlm.nih.gov] Tics Brachydactyly High palate Sensorineural hearing impairment Susceptibility to chickenpox Flaring of lower rib cage Gastric varix Pulmonary lymphoma Abnormality of humoral[mendelian.co] Oral and intravenous biphosphonate are commonly prescribed for all types of OI. 7 Regular surveillance for hearing impairment every 3–5 years is recommended for all types[ncbi.nlm.nih.gov]

  • Craniofrontonasal Dysplasia

    shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324[rarediseases.info.nih.gov] […] hairline Joint hypermobility Low posterior hairline Microcephaly Muscular hypotonia Oral cleft Plagiocephaly Preaxial foot polydactyly Sandal gap Scoliosis Sensorineural hearing[familydiagnosis.com] Some individuals affected by CFND may also have diminished muscle tone (hypotonia), developmental delays, hearing impairment (sensorineural deafness), a sunken chest (pectus[rarediseases.org]

Further symptoms

Similar symptoms