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3,706 Possible Causes for Hearing Impairment, Sloping Shoulders, Urine Hyaluronic Acid Increased

  • Ruijs Aalfs Syndrome

    Down-sloping shoulders MedGen UID: 346461 • Concept ID: C1856872 • Finding Low set, steeply sloping shoulders.[ncbi.nlm.nih.gov] impairment Narrow palpebral fissure Azoospermia Bilateral sensorineural hearing impairment Abnormality of the genital system Brachydactyly Anemia Sensorineural hearing impairment[mendelian.co] […] to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping[familydiagnosis.com]

  • 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]

    Missing: Urine Hyaluronic Acid Increased
  • 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] In this report, we describe a patient with bilateral hearing impairment, unusually-shaped ears, no intellectual disability and a patent ductus arteriosus.[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]

    Missing: Urine Hyaluronic Acid Increased
  • 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]

    Missing: Urine Hyaluronic Acid Increased
  • 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]

    Missing: Urine Hyaluronic Acid Increased
  • 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]

    Missing: Urine Hyaluronic Acid Increased
  • 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]

    Missing: Urine Hyaluronic Acid Increased
  • 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]

    Missing: Urine Hyaluronic Acid Increased
  • 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]

    Missing: Urine Hyaluronic Acid Increased
  • Fibrodysplasia Ossificans Progressiva

    Hayden can barely bend forward, and he cannot raise his arms much above his shoulders. Once down that slope, he may not be able to get back up.[nytimes.com] About half of people with FOP experience hearing impairment. Poor blood flow can lead to pooling of the blood in the arms or legs, causing visible swelling.[healthline.com] IMPAIRMENT IN FOP Hearing impairment is a common feature of FOP and occurs in approximately 50% of patients.[pubmedcentral.nih.gov]

    Missing: Urine Hyaluronic Acid Increased

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