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78 Possible Causes for Hearing Problem, Joint Contracture, Thick Facial Skin

  • Mucopolysaccharidosis 2

    Major clinical manifestations include joint contractures, obstructive and restrictive airway disease, cardiac disease, skeletal deformities and often mental retardation.[ingentaconnect.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] Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly.[patient.info]

  • Mucopolysaccharidosis 1

    Other treatments Orthopaedic surgery for joint contractures and skeletal deformities.[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] By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com]

  • Geleophysic Dysplasia

    Some may have hearing problems, due to the chronic ear infections that could contribute both developmental and speech delays Geleophysic dysplasia results from mutations in[angelfire.com] Geleophysic dysplasia is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with short limbs, brachydactyly, and joint contractures.[ncbi.nlm.nih.gov] We report on two boys with facial anomalies, small hands and feet, joint contractures, thick skin, unusual tiptoe gait and lysosome-like inclusions in the hepatocytes, compatible[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1H

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[rarediseases.about.com] Other treatments Orthopaedic surgery for joint contractures and skeletal deformities.[patient.info] […] 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]

  • Noonan Syndrome

    Children suspected of having Noonan syndrome should be screened for heart, vision, and hearing problems.[merckmanuals.com] Talipes equinovarus, radioulnar synostosis, cervical spine fusion, and joint contractures are less common findings. [13] Skin findings These include the following: Lymphedema[emedicine.medscape.com] 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

    Coarse facies, mild dysostosis multiplex, hepatosplenomegaly and joint contractures may also be present.[genedx.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] Some children have seizures others have visual and hearing problems.[jonahsjustbegun.org]

  • Cerebral Palsy

    Risk factors for fracture in this group include nonambulatory status, anticonvulsant use, presence of a joint contractures, immobilization after surgery, and poor nutrition[ncbi.nlm.nih.gov] 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]

  • Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome

    Endocrinologic manifestations Short stature (43%) Early or delayed puberty Thyroid problems 5.[lymphedemapeople.com] contractures, and normal intelligence.[doi.org] […] lips, stunted growth, bird-like legs, mental retardation Dermatologic a 123:227–243, 1961 Branchio-oculo-facial syndrome – linear atrophic patches of neck, ears, eyes, mouth[yumpu.com]

  • Wiedemann-Rautenstrauch Syndrome

    Poor feeding [ more ] 0011968 Fever 0001945 Global developmental delay 0001263 Growth hormone deficiency 0000824 Hearing abnormality Abnormal hearing 0000364 Hepatic steatosis[rarediseases.info.nih.gov] Our first patient also has excessive joint contractures, persisting thrombocytosis and rectal prolapse.[ncbi.nlm.nih.gov] WRS patients are characterized by premature aging present at birth including pseudohydrocephalus, cranio-facial disproportion, reduced subcutaneous fat, thin skin, rigid and[wwww.unboundmedicine.com]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    ) or hearing problems (hearing loss, recurrent otitis media).[flipper.diff.org] contractures - ophthalmoplegia Ichthyosis hystrix of Curth-Macklin Intermediate nemaline myopathy Intermittent hydrarthrosis Jackson-Weiss syndrome Juvenile polyposis of[csbg.cnb.csic.es] […] folds of the upper eyelid that partially cover the inner corners of the eyes) and thick or droopy eyelids The facial features of Noonan syndrome may change considerably with[chop.edu]

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