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196 Possible Causes for Hearing Problem, Retinal Degeneration, Round Face

  • Mucopolysaccharidosis

    People with MPS IVB can have lots of problems. They can have skeleton, heart, vision and dental problems, hearing loss, growth deficiency and short stature.[] 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.[] However, they may present with a variety of physical problems. These may include joint stiffness, heart problems, corneal clouding and hearing loss.[]

  • Mucopolysaccharidosis 2

    Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly.[] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[] He may be eligible for one-on-one attention in the classroom or help for other issues, like hearing problems. Take care of yourself, too.[]

  • Mucopolysaccharidosis 1

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[] Glaucoma, retinal degeneration, and clouded corneas may significantly impair vision.[]

  • Kniest Dysplasia

    Those with Kniest dysplasia may also have vision and hearing problems.[] 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[] All of the patients had congenital severe myopia and vitreoretinal degeneration. Four patients developed rhegmatogenous retinal detachments.[]

  • Stickler Syndrome

    Hearing problems are associated with sensorineural or conductive.[] Most also have a characteristic face with flat cheekbones.[] The ocular findings, frequently bilateral, consisted of radial perivascular retinal degeneration (RPRD) (100%), vitreous syneresis (100%), high myopia (76%), retinal detachment[]

  • Down Syndrome

    They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton.[] Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[] In this case, the retinal degeneration was morphologically different from retinal lattice degeneration, thus suggesting that it might be involved in the onset of DS-related[]

  • Alstrom Syndrome

    […] will often be diagnosed shortly after birth whilst hearing problems usually occur before the age of 10.[] 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[] 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).[]

  • Zellweger Syndrome

    Care is usually handled by a team of specialists that may include pediatricians, neurologists, surgeons, audiologists (treat hearing problems), ophthalmologists (treat vision[] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[] Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur.[]

  • Oculomotor Apraxia

    Cogan syndrome causes problems of hearing and balance and also inflammation of the cornea and often fever , fatigue , and weight loss .[] Adverse effects of glucocorticoids are well known and include glucose intolerance, diabetes, easy bruising, increased infections, rounded faces, loss of calcium from bones[] These include Joubert syndrome, Jeune syndrome (nephronophthisis, asphyxiating thoracic dystrophy, retinal degeneration, and ataxia), and a subset of patients with Leber congenital[]

  • Smith-Magenis Syndrome

    Treatment for vision problems and hearing problems may be needed. Sleep therapy and/or medication may be needed to help improve sleep patterns and quality of sleep.[] The characteristic face of Smith-Magenis syndrome is round or square with a flattened midface. The eyes slant upwards and are relatively close set.[] […] and lattice retinal degeneration.[]

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