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83 Possible Causes for Aortic Valve Insufficiency, Coarse Facial Features, Hoarseness

  • Mucopolysaccharidosis

    Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] Patients also develop hepatosplenomegaly, frequent ear infections, and a thickening of the vocal cords and airway that leads to hoarseness and sleep apnea.[invitae.com]

  • Mucopolysaccharidosis 1

    Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] In general, symptoms may include coarse facies, short stature, enlarged liver and spleen, hoarse voice, stiff joints, cardiac disease, but no neurological involvement.[neurology.testcatalog.org]

  • Syphilis

    Aortic valve insufficiency may result. Neurosyphilis has several forms. If the spirochete invades the CNS, syphilitic meningitis results.[emedicine.medscape.com] We present a 53-year-old woman with an unusual truncal rash with painful anogenital lesions, accompanied by patchy alopecia, oral lesions, photophobia and hoarseness.[ncbi.nlm.nih.gov] Salient features are coarse movements, dull facial expression, increased muscle reflexes and pupil abnormalities. At the late stage seizures may occur.[alzheimer-europe.org]

  • Mucopolysaccharidosis 4

    Patients may also have coarse facial features, although this is usually milder than that seen in MPSI or MPSII.[genedx.com] […] deformity, dorsolumbar kyphosis, increased anteroposterior diameter of chest, pectus excarinatum, waddling gait, pot belly, valgus deformity of both upper and lower limbs and hoarse[apicareonline.com] Patients also develop hepatosplenomegaly, frequent ear infections, and a thickening of the vocal cords and airway that leads to hoarseness and sleep apnea.[invitae.com]

  • Mucopolysaccharidosis 1H

    Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a -L-iduronidase .[medgen.genetics.utah.edu] Mitral and aortic valve insufficiency were observed pre-HCT in 46.5% and 10.1% of the patients, respectively.[bloodjournal.org] Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov]

  • Mucopolysaccharidosis 6

    Cardiac abnormalities can include narrowing (stenosis) and insufficiency of certain valves of the heart including the aortic, the mitral, and the tricuspid valves.[rarediseases.org] In general, symptoms may include coarse facies, short stature, enlarged liver and spleen, hoarse voice, stiff joints, cardiac disease, but no neurological involvement.[neurology.testcatalog.org] Physical Facial features associated with MPS VI include the following: Coarse facial features (Compare the facial features with those of other family members to best appreciate[emedicine.medscape.com]

  • Mucolipidosis

    Abstract We report replacement of the aortic valve in a patient aged 9 years with mucolipidosis III and severe aortic insufficiency.[ncbi.nlm.nih.gov] Vocal cords can stiffen, resulting in a hoarse voice. The airway is narrow, which can contribute to prolonged or recurrent respiratory infections.[ldnz.org.nz] Mucolipidosis II (MLII) is characterized by severe global developmental delay, coarse facial features, skeletal deformities, and other systemic involvement.[ncbi.nlm.nih.gov]

  • Pseudo-Hurler Polydystrophy

    These patients usually have skeletal abnormalities, coarse facial features, short height, corneal clouding, carpal tunnel syndrome, aortic valve disease and mild enlargement[en.wikipedia.org] Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common[ncbi.nlm.nih.gov] Farber disease, disseminated lipogranulomatosis (ceramidase deficiency): Farber disease starts to manifest in infancy as a hoarse cry or swollen tender joints followed by[emedicine.medscape.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Surgical Care : Surgery specifically for bicuspid aortic valve is not necessary unless progressive complications ensue (valve insufficiency, valve stenosis, progressive aortic[chd-uk.co.uk] Other Possible Symptoms Curved spine, called scoliosis Ear infections Early puberty Farsightedness Hernia High levels of calcium in the blood Hoarse voice Joint and bone problems[webmd.com] facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal[rasopathiesnet.org]

  • Williams-Beuren Syndrome

    Surgical Surgery may be required for supravalvular aortic stenosis in 20-30% of patients. [ 11 ] Surgical treatment of mitral valve insufficiency or renal artery stenosis[patient.info] Abstract The voice of persons with Williams syndrome (WS) is described as hoarse with a deep and unstable fundamental frequency (f0).[ncbi.nlm.nih.gov] She had hypotonia and large tongue, "coarse" face, and umbilical hernia in presence of complex congenital cardiovascular malformations.[ncbi.nlm.nih.gov]

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