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530 Possible Causes for Hearing Impairment, Retinal Degeneration, 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] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[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] degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com] Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life.[icd9data.com]

  • Mucopolysaccharidosis 1

    Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.com] impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may include the following[emedicine.medscape.com]

  • Alstrom Syndrome

    The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing impairment, diabetes mellitus, and hypertriglyceridemia[ncbi.nlm.nih.gov] Although growth spurt is normal in early childhood, it plateaus off and individuals with ALMS usually have a short stature, round face, thick ears, frontal alopecia, abnormal[symptoma.com] degeneration before the age of 1 year (P 0.02), the occurrence of urological dysfunction (P 0.02), of DCM (P 0.03), and of diabetes (P 0.03).[ncbi.nlm.nih.gov]

  • 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] 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]

  • Zellweger Syndrome

    It is characterized by severe hypotonia, failure to thrive, psychomotor retardation, liver dysfunction, and sensorineural hearing impairment.[ncbi.nlm.nih.gov] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur.[ninds.nih.gov]

  • Chromosome 18p Deletion Syndrome

    Two cases with impaired hearing are presented in this paper including one case with complex external ear and middle ear malformations.[cambridge.org] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org] Degeneration (Marie Ataxia] Spondyloepiphyseal dysplasia congenita (SEDC).[neurometplus.com]

  • Usher Syndrome Type 2A

    Patients diagnosed with USH2A have congenital hearing impairment that ranges from moderate to severe and experience progressive vision loss beginning in the second decade[scholarsbank.uoregon.edu] My first impression on opening the box was it was nice to hold, smooth rounded edges and the face size felt right on my wrist.[limpingchicken.com] FDA-regulated Device Product: No Additional relevant MeSH terms: Retinitis Retinitis Pigmentosa Retinal Degeneration Usher Syndromes Retinal Diseases Eye Diseases Eye Diseases[clinicaltrials.gov]

  • Stickler Syndrome

    CONCLUSIONS: Hearing impairment in patients with Stickler syndrome is common.[ncbi.nlm.nih.gov] Most also have a characteristic face with flat cheekbones.[dbproject.mn.org] The ocular findings, frequently bilateral, consisted of radial perivascular retinal degeneration (RPRD) (100%), vitreous syneresis (100%), high myopia (76%), retinal detachment[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    The eyes presented with severe myopia and retinal dysplasia.[doi.org] The MRI showed cortical gyration of the frontal lobes, micropolygyria of the temporal lobe, and bilateral microcystic degeneration of the cerebellar cortex.[doi.org]

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