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264 Possible Causes for Airway Obstruction, Deafness, Round Face

  • Mucopolysaccharidosis

    These include progressive dementia, aggressive behavior, hyperactivity, seizures, some deafness and loss of vision, and an inability to sleep for more than a few hours at[en.wikipedia.org] 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] […] progressive mental retardation, mild dwarfism, and other skeletal disorders Mucopolysaccharidosis with excessive chondroitin sulfate b in urine, characterized by dwarfism and deafness[icd9data.com]

  • Mucopolysaccharidosis 1

    Some of the symptoms include: Abnormal bones in the spine Claw hand Cloudy corneas Deafness Halted growth Heart valve problems Joint disease, including stiffness Intellectual[medlineplus.gov] Progressive upper airway disease leads to obstructive sleep apnoea.[patient.info] Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure Mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative[se-atlas.de]

  • Mucopolysaccharidosis 2

    Progressive deafness - usually mixed sensorineural/conductive variety. Abnormal retinal pigmentation and papilloedema - leading to visual impairment.[patient.info] Oropharyngeal and tracheobronchial deposition of glycosaminoglycans results in airway obstruction due to macroglossia, supraglottic narrowing, and tracheomalacia.[symptoma.com] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov]

  • Fabry Disease

    […] progressive deafness with a sudden deafness on the other ear.[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

    Findings include a short trunk, prominent and stiff joints, flattened face, eye abnormalities, deafness, inguinal hernias, hip dislocation, cleft palate, and talipes equinovarus[medical-dictionary.thefreedictionary.com] The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[zfin.org] obstruction.[ncbi.nlm.nih.gov]

  • Marshall-Smith Syndrome

    Whites of eyes are a bluish-gray color 0000592 Bruising susceptibility Bruise easily Easy bruisability Easy bruising [ more ] 0000978 Conductive hearing impairment Conductive deafness[rarediseases.info.nih.gov] Severe airway obstruction due to congenital anomalies must be excluded in any dysmorphic child presenting with respiratory distress at birth.[ncbi.nlm.nih.gov] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net]

  • Achondroplasia

    CONCLUSIONS: The use of polysomnography enables clinicians to identify children with upper airway obstruction and to quantify disease severity; it is not suitable for MRI[ncbi.nlm.nih.gov] face discussion; 3) edit the list and rate it in a second round.[ncbi.nlm.nih.gov] She had classical symptoms and signs of upper airway obstruction, which is often seen in patients with achondroplasia.[ncbi.nlm.nih.gov]

  • Mandibulofacial Dysostosis

    Abstract Bilateral conductive deafness is common in mandibulofacial dysostosis with or without atresia of the external auditory meatus.[ncbi.nlm.nih.gov] 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]

  • Neuhauser Syndrome

    If there is vertigo, tinnitus, or deafness, then an audiogram and caloric testing should be done.[checkorphan.org] Kommerell diverticulum may be asymptomatic or cause symptoms of esophageal or tracheal obstruction.[radiopaedia.org] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov]

  • Osteogenesis Imperfecta

    Code Applicable To Deafness NOS High frequency deafness Low frequency deafness congenital H90.5 ICD-10-CM Diagnosis Code H90.5 Unspecified sensorineural hearing loss 2016[icd10data.com] […] sleep apnea such as body mass index and upper-airway impairment.[ncbi.nlm.nih.gov] faces cases of OI type VIII are similar to OI types II or III in appearance and symptoms except for white sclerae Additional forms of OI The following conditions are rare[radiopaedia.org]

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