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91 Possible Causes for Hearing Problem, Scoliosis, Thick Facial Skin

  • Mucopolysaccharidosis 2

    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] Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly.[patient.info] Figure 2: showing dorso lumbar scoliosis with anterior breaking at D12, L1,2,3 with ovoid shaped vertebra. Figure 3: shows X ray skull with calvarial thickening.[omicsonline.org]

  • Achondroplasia

    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] Chronic otitis media can lead to hearing problems. Dental crowding is common. Thoracolumbar kyphosis is very common in infancy.[orpha.net] Bony characteristics such as vertebral anomalies, lordosis and lumbar scoliosis, limited mouth opening and cervical spine instability make the administration of anesthesia[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[wikidoc.org] By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.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]

  • Cerebral Palsy

    Side effects from medications include: xerostomia, thick mucoid secretions, dehydration, urinary retention, urinary tract infections, constipation, facial flushing, skin rash[doi.org] Difficulty swallowing Drooling Some people with CP suffer from other medical disorders as well, including: Seizures Intellectual disabilities Learning disabilities Vision or hearing[childrens.uvahealth.com] scoliosis.[doi.org]

  • Microtia

    problems.[ncbi.nlm.nih.gov] Chest wall deformities and thoracic scoliosis after cartilage graft harvesting. Plast Reconstr Surg. 1997; 99 1030-1037 50 Siegert R, Knölker U, Konrad E.[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]

  • Kabuki Syndrome

    […] features (e.g., arched eyebrows, thick eyelashes, etc.), skeletal abnormalities, and ridges on the skin.[hcpro.com] […] 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] A patient with Kabuki syndrome had revision surgery for scoliosis.[ncbi.nlm.nih.gov]

  • Neurofibromatosis Type 6

    Hearing and eye tests can check for cataracts, other eye problems, and hearing problems.[medicalnewstoday.com] This type of scoliosis in children with NF1 is called nondystrophic. A less common form of scoliosis that affects children with NF1 is dystrophic scoliosis.[orthoinfo.aaos.org] Some children with NF1 have distinctive appearance that may include slight generalized increase in pigmentation, facial features such as widely spaced eyes and thick lips,[childneurologyfoundation.org]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    […] features with thick lips (6) Loose skin (7) HRAS mutations 4.[circ.ahajournals.org] Some affected individuals have vision or hearing problems. Affected infants may have feeding problems, which typically get better by age 1 or 2 years.[icdlist.com] A characteristic pectus deformity of the chest has been described and scoliosis has been reported in 10-15% of the cases. [2] Our patient had pectus excavatum, scoliosis,[heartindia.net]

  • Ehlers-Danlos Syndrome

    Ears : The joints between the tiny bones in the ears can dislocate and cause hearing problems.[slingsandarrowsofoutrageousfortune.wordpress.com] In some cases, orthopedic surgery is required to correct the scoliosis. This is a 15-year old girl with has scoliosis and Ehler’s-Danlos syndrome.[scoliosisassociates.com] Characteristic facial appearance, sometimes called the "Madonna face", including lobeless ears, thick nose and lips, and prominent eyes. Spontaneous pneumothorax.[patient.info]

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