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108 Possible Causes for Hearing Impairment, Short Neck, Thick Facial Skin

  • Mucopolysaccharidosis 2

    Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.[disorders.eyes.arizona.edu] 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]

  • Mucopolysaccharidosis 1H

    Others: Other features may include short neck, subluxation of vertebral bodies, thick and coarse body hair and thickened skin.[symptoma.com] 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]

  • Mucopolysaccharidosis 1

    Airway evaluation: abnormal neck anatomy, short neck with limited mobility, hyromental and thyromentonian distance less than 6 cm, severely limited jaw protrusion, mouth opening[omicsonline.org] 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]

  • Microtia

    The aim of this work is to report our surgical technique of microtic ear correction and to analyse the short and long term results.[ncbi.nlm.nih.gov] 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]

  • Lytic Bone Lesion

    […] mouth with dental anomalies, low-set ears, and short neck.[iofbonehealth.org] impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond[rarediseases.info.nih.gov] […] cardiac anomaly / malformation / cardiopathy - Dry / squaly skin / exfoliation - Facial pain / cephalalgia / migraine - Failure to thrive / difficulties for feeding in infancy[csbg.cnb.csic.es]

  • Chronic Otitis Externa

    I bought one, but did not like it because the neck skirt was too short.[scubaboard.com] Signs and symptoms range from ear discomfort, pruritus, otorrhoea and conductive hearing impairment to severe pain, occlusive oedema of the canal and systemic effects.[gponline.com] […] disease Commonly associated with scalp involvement but rarely with facial involvement Raised, red lesions with thick, silvery-white adherent scale Often pruritic Seborrheic[aafp.org]

  • Noonan Syndrome

    Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[ncbi.nlm.nih.gov] 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]

  • Hunermann Conradi Syndrome

    Synopsis stippled epiphyseal calcification (epiphyseal stippling) dwarfism flat facies depressed nasal bridge cataract short neck flexion contracture foot deformation ichtyosiform[humpath.com] impairment Scoliosis Nystagmus Failure to thrive SOURCES: OMIM ORPHANET MENDELIAN More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Low match CARDIOFACIOCUTANEOUS[mendelian.co] […] dry skin [5].[cyberleninka.org]

  • Legius Syndrome

    neck Excess skin on back of neck Wideset eyes Downslanting palpebral fissures Short, broad nose with flat tip Depressed nasal root Low-set ears that point toward the back[forgottendiseases.org] The ears are low set and some of these children have impaired hearing. The skin is dry and thicker than normal (hyperkeratosis).[socialstyrelsen.se] 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]

  • Coffin-Lowry Syndrome

    She had the characteristic short fifth digits (Fig. 1), a short neck, thick lips, and macroglossia (Fig. 2 and 3). Airway assessment was Mallampati class 3.[journals.lww.com] Audiological tests revealed profound hearing impairment. Anomalous labyrinths were shown by CT scan of the temporal bones.[ncbi.nlm.nih.gov] Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth.[medicinenet.com]

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