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78 Possible Causes for Hearing Problem, Short Neck, Thick Facial Skin

  • Mucopolysaccharidosis 2

    Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly.[patient.info] Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.[disorders.eyes.arizona.edu] 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 1

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com] 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] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[wikidoc.org]

  • Noonan Syndrome

    Children suspected of having Noonan syndrome should be screened for heart, vision, and hearing problems.[merckmanuals.com] 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] 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]

  • Microtia

    problems.[ncbi.nlm.nih.gov] 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] 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]

  • Chronic Otitis Externa

    problems Your health care provider will diagnose an ear infection by looking inside the ear with an instrument called an otoscope.[icdlist.com] I bought one, but did not like it because the neck skirt was too short.[scubaboard.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]

  • Mucopolysaccharidosis 1H

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com] Others: Other features may include short neck, subluxation of vertebral bodies, thick and coarse body hair and thickened skin.[symptoma.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]

  • Achondroplasia

    Chronic otitis media can lead to hearing problems. Dental crowding is common. Thoracolumbar kyphosis is very common in infancy.[orpha.net] 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] Achievement of gross motor skills is slower than typical due to short limbs, short neck, and large head, in addition to hypotonia.[orpha.net]

  • Legius Syndrome

    Patients develop hearing problems, ringing in the ears ( tinnitus ), and dizziness. By the age of 30, nearly all patients with NF2 have bilateral vestibular schwannoma.[dermnetnz.org] 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] 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]

  • Costello Syndrome

    As for every individual with developmental delay, an eye and hearing evaluation is indicated, and medical problems are treated as necessary.[nature.com] Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal[ncbi.nlm.nih.gov] Major Features Dysphagia / Feeding difficulty / Gastrostomy tube (g-tube) (95%) Postnatal short stature (97%) Characteristic facial features (98%) Thick lips (95%) Loose skin[web.archive.org]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    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] The neck is short in nearly half of the patients. The facial appearance may change with age being more triangular in adolescents and adults.[ojrd.biomedcentral.com] […] features with thick lips (6) Loose skin (7) HRAS mutations 4.[circ.ahajournals.org]

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