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878 Possible Causes for Hearing Impairment, Round Face

  • 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] He also had congenital hypothyroidism, round face, full cheeks, shortness of limbs, mild developmental delay, and muscular hypotonia.[ncbi.nlm.nih.gov]

  • 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] impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may include the following[emedicine.medscape.com] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd9data.com]

  • 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] impaired he has about 20% hearing left constipation problems facial tics developemental delays accross th eboard speech problems skin problems ecthama( i can't spell it)[circleofmoms.com]

  • 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] Furthermore, Zellweger syndrome causes hearing impairment, profound mental retardation and developmental delay.[ic.steadyhealth.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] impairment, heart disease, and a shortened lifespan.[verywell.com]

  • Congenital Muscular Dystrophy

    Abstract Clinical features and molecular data are described for a patient with undetectable expression of laminin alpha2 chain (merosin) and severe congenital muscular dystrophy. Molecular analysis of the LAMA2 gene revealed two previously un-described mutations. The patient achieved independent sitting at age 2,[…][ncbi.nlm.nih.gov]

  • Meniere's Disease

    The hearing threshold was usually decreased to a level of mild or moderate hearing impairment.[ncbi.nlm.nih.gov] Patients self-administer medication into the ear three times daily, while lying with the treated ear facing upward for fifteen minutes each time.[audiologyonline.com] Diabetes mellitus was associated with both more severe hearing impairment (p   .033) and more frequent vertigo (p   .028) in MD patients.[ncbi.nlm.nih.gov]

  • Microtia

    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] Microtia is often associated with impaired hearing and or total loss of hearing.[ncbi.nlm.nih.gov]

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