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140 Possible Causes for Hearing Impairment, Skeletal Dysplasia, Thick Facial Skin

  • Mucopolysaccharidosis 2

    MPS IVB is characterized by skeletal changes, including short stature and skeletal dysplasia.[] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[] Patients with MPS II typically exhibit systemic manifestations including a short stature, a specific facial appearance, dysostosis multiplex, a thick skin, inguinal hernia[]

  • Mucopolysaccharidosis 1

    Skeletal dysplasia is striking and although neonates may appear healthy, radiographic studies may reveal signs of dysostosis multiplex at birth.[] Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[]

  • Mucopolysaccharidosis 1H

    In 1919, while training in paediatrics, Hurler described a syndrome of corneal clouding, dwarfing skeletal dysplasia, spinal malalignment and mental retardation.[] Hearing impairment. Mental retardation. Inguinal hernias. Joint stiffness and skeletal deformities Coronary heart disease. Hepatosplenomegaly.[] […] 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[]

  • Mucopolysaccharidosis 3

    Prominent foreheads, large head circumferences, Coarse thick hair, bushy eyebrows, Thick skin, Full lips, Low thick ears, Low nasal bridge, Full round bellies.[] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[] impairment Deafness Hearing defect If a carrier of MPS IIIA is concerned about having an affected child, his/her partner can be screened for the most common mutations known[]

  • Lytic Bone Lesion

    Kauntze: Cranio-skeletal dysplasia. British Journal of Radiology, London, 1948, 21: 42-48. W. D. Cheney: Acro-osteolysis.[] impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond[] […] cardiac anomaly / malformation / cardiopathy - Dry / squaly skin / exfoliation - Facial pain / cephalalgia / migraine - Failure to thrive / difficulties for feeding in infancy[]

  • Growth Hormone Deficiency

    dysplasia.[] The goal of this study is to evaluate the prevalence, type, and severity of hearing impairment in children with GHD.[] However, a nice side benefit is that growth hormone also increases the thickness of the skin.[]

  • Wyburn Mason's Syndrome

    Radiology of syndromes, metabolic disorders, and skeletal dysplasia. 4th ed. St. Louis: Mosby, pp. 376–379.[] impairment Irritability Iris hypopigmentation Loss of consciousness Nausea and vomiting Proptosis Subarachnoid hemorrhage Tinnitus (Source: Wyburn-Mason Syndrome; Genetic[] […] with different texture, thickness, and color, usually on the face. [5] The facial features caused by the syndrome vary from slight discoloration to extensive nevi and angiomas[]

  • Noonan Syndrome

    Taybi H (1990) Radiology of syndromes, metabolic disorders and skeletal dysplasias. 3rd edn. Year Book, Chicago, pp 337–338 Google Scholar 14.[] hearing impairment.[] They can also present with thick hooded eyelids, wrinkled skin and a high anterior hair line, albeit all aforementioned facial features can be subtle.[]

  • Cerebral Palsy

    […] how the development and utilization of the Gross Motor Function Classification System has contributed to our understanding of the epidemiology and natural history of hip dysplasia[] impairment, gastro-oesophageal reflux and constipation, learning and behavioural difficulties) which require close multi-disciplinary teamwork.[] Side effects from medications include: xerostomia, thick mucoid secretions, dehydration, urinary retention, urinary tract infections, constipation, facial flushing, skin rash[]

  • Lenz-Majewski Syndrome

    Lachman RS (1997) The cervical spine in the skeletal dysplasias and associated disorders.[] impairment 0000407 Short stature Decreased body height Small stature [ more ] 0004322 Sparse hair 0008070 Sporadic No previous family history 0003745 Syndactyly Webbed fingers[] Lenz-Majewski-Like Syndrome: Mesoectodermal dysplasia with macrocephaly, specific facial features (exophthalmos, broad nasal root, anteverted nostrils, large auricles, thick[]

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