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407 Possible Causes for Airway Obstruction, Hearing Impairment, Round Face

  • Mucopolysaccharidosis 2

    The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] Oropharyngeal and tracheobronchial deposition of glycosaminoglycans results in airway obstruction due to macroglossia, supraglottic narrowing, and tracheomalacia.[symptoma.com]

  • Mucopolysaccharidosis

    During 36 months of ERT, symptoms typical of MPS VI including short stature, progressive dysmorphic facial features, hepatosplenomegaly, hearing impairment, corneal clouding[ncbi.nlm.nih.gov] Although upper airway obstruction was noted, it resolved with simple airway maneuvers without further airway intervention. 2017 John Wiley & Sons Ltd.[ncbi.nlm.nih.gov] impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may include the following[emedicine.medscape.com]

  • Mucopolysaccharidosis 1

    Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may include the following[emedicine.medscape.com] obstruction, corneal and retinal damage, carpal tunnel syndrome, and restricted joint movement.[armagen.com]

  • Pseudohypoparathyroidism Type 1A

    impairment 0000407 Short 3rd metacarpal Shortened 3rd long bone of hand 0010041 Spinal cord compression Pressure on spinal cord 0002176 Strabismus Cross-eyed Squint Squint[rarediseases.info.nih.gov] In children aged 2 years, the commonest clinical features were round lunar face, obesity (70%), and subcutaneous ossifications (60%).[ncbi.nlm.nih.gov] […] on neurocognitive function in obstructive sleep apnea patients: The Apnea Positive Pressure Long-term Efficacy Study (APPLES).[karger.com]

  • Fabry Disease

    Configuration of hearing loss was classified according to the European Working Group on Genetics of Hearing Impairment.[ncbi.nlm.nih.gov] Round-robin slide reviews and two face-to-face scoring sessions with a modified Delphi technique [ 23 ] were used to refine the scoring system.[ncbi.nlm.nih.gov] Pulmonary There can be chronic obstructive airways disease like symptoms with bronchial wall thickening.[radiopaedia.org]

  • Kniest Dysplasia

    Recurrent otitis media may lead to conductive hearing impairment or hearing loss.[symptoma.com] face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[rarediseases.info.nih.gov] obstruction.[ncbi.nlm.nih.gov]

  • Marshall-Smith Syndrome

    impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Generalized hirsutism Excessive hairiness over body 0002230 Hypertelorism Wide-set eyes Widely spaced[rarediseases.info.nih.gov] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net] Conclusion Severe airway obstruction due to congenital anomalies must be excluded in any dysmorphic child presenting with respiratory distress at birth.[doi.org]

  • Mandibulofacial Dysostosis

    Children with hearing impairment will need support in terms of hearing aids or cochlear implant as well as speech and language therapy.[gosh.nhs.uk] The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares,[ncbi.nlm.nih.gov] This report is of a patient with DBA who presented at birth with respiratory distress secondary to tongue-based obstruction of the airway due to mandibulofacial dysostosis[ncbi.nlm.nih.gov]

  • Apert Syndrome

    impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal[rarediseases.info.nih.gov] […] to create a more rounded, even appearance move the jaw and face bones to improve appearance and help with breathing release webbed fingers and sometimes toes remove teeth[healthline.com] Twenty-three of these complications were supraglottic airway obstruction (4.5% of total cases).[ncbi.nlm.nih.gov]

  • Microtia

    Phone: 617-636-2820 Fax #: 617-636-1479 Pediatric ENT, cleft lip and palate surgery, vascular anomalies, neonatal mandibular distraction osteogenesis for airway obstruction[tuftsmedicalcenter.org] Similar findings were obtained on a subset of 25 unilaterally hearing-impaired children who satisfied rather stringent criteria for age, hearing level, intelligence, length[doi.org] I look into that round little face with those chubby cheeks and laughing smile, and I just want to never let her go.[goodmenproject.com]

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