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152 Possible Causes for Hearing Impairment, Pediatric Disorder, Thick Facial Skin

  • Mucopolysaccharidosis 2

    The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com] Patients with MPS II typically exhibit systemic manifestations including a short stature, a specific facial appearance, dysostosis multiplex, a thick skin, inguinal hernia[journals.plos.org] Abstract Mucopolysaccharidosis type II (MPSII) is an inherited disorder due to a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS).[ncbi.nlm.nih.gov]

  • Wyburn Mason's Syndrome

    impairment Irritability Iris hypopigmentation Loss of consciousness Nausea and vomiting Proptosis Subarachnoid hemorrhage Tinnitus (Source: Wyburn-Mason Syndrome; Genetic[dovemed.com] […] with different texture, thickness, and color, usually on the face. [5] The facial features caused by the syndrome vary from slight discoloration to extensive nevi and angiomas[en.wikipedia.org] The new third edition of Pediatric Stroke and Cerebrovascular Disorders provides a modern clinical approach to managing stroke and other cerebrovascular problems in infants[books.google.com]

  • Mucopolysaccharidosis 1H

    Hearing impairment. Mental retardation. Inguinal hernias. Joint stiffness and skeletal deformities Coronary heart disease. Hepatosplenomegaly.[medigoo.com] […] hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal[dx.doi.org] Pediatrics. 1999;103(6):1158–66. View Article PubMed Google Scholar Manikam R, Perman JA. Pediatric feeding disorders. J Clin Gastroenterol. 2000;30(1):34–46.[ojrd.biomedcentral.com]

  • Mucopolysaccharidosis 1

    Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[wikidoc.org] ., The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr, 2004. 144(5 Suppl): p. S27-34. 2). Beesley, C.E., D.[egl-eurofins.com]

  • Mucopolysaccharidosis 3

    impairment Deafness Hearing defect If a carrier of MPS IIIA is concerned about having an affected child, his/her partner can be screened for the most common mutations known[rarediseases.info.nih.gov] Prominent foreheads, large head circumferences, Coarse thick hair, bushy eyebrows, Thick skin, Full lips, Low thick ears, Low nasal bridge, Full round bellies.[phoenixnestbiotech.com] Mucopolysaccharidosis III is considered the most common of these genetic disorders, occurring with an incidence of 1 in 70,000 newborns.[emedicine.medscape.com]

  • Fucosidosis

    Other signs related to fucosidosis include visceromegaly that can affect the spleen, liver, and heart, epilepsy, hearing impairment or total hearing loss, kyphoscoliosis,[symptoma.com] The primary symptoms of Fucosidosis – Type 1 include developmental delays, mental retardation, overall weakness, poor muscle tone, thick skin, rough facial features and excessive[disability-benefits-help.org] Pediatr Radiol 2007;37:1050-2. 8. Sanklecha MU, Kher A, Naik GG, Bharucha BA, Mahajan P. Storage disorders presenting like mucopolysaccharidosis.[pediatricneurosciences.com]

  • Otitis Externa

    The following are the more common signs and symptoms of otitis externa: Otalgia Erythema Pruritus Fluid discharge from the ear (pus) Hearing impairment Swelling of the affected[symptoma.com] […] may become red, thickened, crusty and hyperpgimented from scratching intense itch Psoriasis Commonly associated with scalp involvement but rarely facial involvement Raised[dermnetnz.org] About Otonomy Otonomy is a biopharmaceutical company focused on the development and commercialization of innovative therapeutics for diseases and disorders of the ear.[globenewswire.com]

  • Acute Otitis Externa

    Symptoms include ear discomfort, itchiness, discharge and impaired hearing.[ncbi.nlm.nih.gov] […] may become red, thickened, crusty and hyperpgimented from scratching intense itch Psoriasis Commonly associated with scalp involvement but rarely facial involvement Raised[dermnetnz.org] About Otonomy Otonomy is a biopharmaceutical company focused on the development and commercialization of innovative therapeutics for diseases and disorders of the ear.[globenewswire.com]

  • 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] The Surgery: Skin Graft A very thin skin graft is generally harvested from the thigh or lower abdomen. This graft is ten 1,000’s of an inch in thickness.[earsurgery.org] […] voice and airway disorders including respiratory papillomatosis and subglottic stenosis pediatric sinus disease advanced surgery for obstructive sleep apnea facial nerve[floatinghospital.org]

  • Noonan Syndrome

    hearing impairment.[rarediseases.org] They can also present with thick hooded eyelids, wrinkled skin and a high anterior hair line, albeit all aforementioned facial features can be subtle.[news-medical.net] NS is one of the RASopathies, which are a class of pediatric disorders associated with genes that are members of the mitogen-activated protein kinase (Ras/ MAPK ) pathway.[invitae.com]

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