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70 Possible Causes for Hearing Problem, Kyphosis, Thick Facial Skin

  • Mucopolysaccharidosis 2

    Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly.[patient.info] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov] 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]

  • Achondroplasia

    Chronic otitis media can lead to hearing problems. Dental crowding is common. Thoracolumbar kyphosis is very common in infancy.[orpha.net] No worsening of kyphosis was observed 24 months postoperatively.[ncbi.nlm.nih.gov] This rare condition causes premature joining of the bones of the skull (craniosynostosis), leading to a misshapen head and distinctive facial features, and a skin abnormality[ghr.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com] An initial kyphosis angle greater than 45 was predictive of progression of more than 10 with sensitivity of 67% and specificity of 88%.[ncbi.nlm.nih.gov] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[wikidoc.org]

  • Microtia

    problems.[ncbi.nlm.nih.gov] The morphological observations of fetuses showed anomalies like open eye lid, distorted body axis, kyphosis, skin hemorrhage, drooping wrist, microphthalmia, low set arm,[medical-dictionary.thefreedictionary.com] 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]

  • Mucopolysaccharidosis 1H

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com] Similar changes with localized kyphosis, may occur in the cervical spine.[medcaretips.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]

  • Ehlers Danlos Syndrome

    Ears : The joints between the tiny bones in the ears can dislocate and cause hearing problems.[slingsandarrowsofoutrageousfortune.wordpress.com] A slightly extensible, thin and translucent skin, associated with dysmorphic facies, acrogeria, multiple ecchymoses, hypermobility of the small joints, dorsal kyphosis, genu[ncbi.nlm.nih.gov] Characteristic facial appearance, sometimes called the "Madonna face", including lobeless ears, thick nose and lips, and prominent eyes. Spontaneous pneumothorax.[patient.info]

  • Coffin-Lowry Syndrome

    Cardiac problems, hearing loss, vision loss, problems with speech Mental retardation, which is often worse in males Episodes of brief collapse without loss of consciousness[medindia.net] Eight patients presented with thoracolumbar kyphosis or kyphoscoliosis, with a mean Cobb angle of 45 degrees in the coronal plane and 31 degrees of thoracolumbar kyphosis.[ncbi.nlm.nih.gov] Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth.[medicinenet.com]

  • Noonan Syndrome

    Children suspected of having Noonan syndrome should be screened for heart, vision, and hearing problems.[merckmanuals.com] Scoliosis and kyphosis occur in about 15% of patients, mainly associated with SOS1 mutations, as it was in our case with severe double curved scoliosis.[bone-abstracts.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]

  • Mucopolysaccharidosis 3

    Some children have seizures others have visual and hearing problems.[jonahsjustbegun.org] Kyphosis — An abnormal outward curvature of the spine, with a hump at the upper back.[medical-dictionary.thefreedictionary.com] 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]

  • Kabuki Syndrome

    […] frequent infections hearing problems or hearing loss congenital heart defects, including coarctation of the aorta, ventricular septal defect and atrial septal defect endocrine[childrenshospital.org] Gastrointestinal. ( not common) Genitourinary. ( renal and urinary tract anomalies in more than 25%) Musculoskeletal. ( joint hypermobility, variable degrees of scoliosis and kyphosis[flipper.diff.org] […] features (e.g., arched eyebrows, thick eyelashes, etc.), skeletal abnormalities, and ridges on the skin.[hcpro.com]

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