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70 Possible Causes for Coarse Face, Hearing Impairment, 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] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[symptoma.com]

  • Coffin-Lowry Syndrome

    Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth.[medicinenet.com] Audiological tests revealed profound hearing impairment. Anomalous labyrinths were shown by CT scan of the temporal bones.[ncbi.nlm.nih.gov] Typically, male patients are of short stature and exhibit a characteristic coarse face with a prominent forehead, orbital hypertelorism, downslanting palpebral fissures, thick[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1H

    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] Low nose bridge, flat face, large head Enlarged liver and spleen Diarrhea Breathing difficulties and snoring Child with Hurler syndrome appears normal at birth.[en.wikibooks.org]

  • Fucosidosis

    The primary symptoms of Fucosidosis – Type 1 include developmental delays, mental retardation, overall weakness, poor muscle tone, thick skin, rough facial features and excessive[disability-benefits-help.org] Other signs related to fucosidosis include visceromegaly that can affect the spleen, liver, and heart, epilepsy, hearing impairment or total hearing loss, kyphoscoliosis,[symptoma.com] He had a coarse face, hepatomegaly and generalized spasticity.[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] Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may include the following[emedicine.medscape.com]

  • Lytic Bone Lesion

    […] cardiac anomaly / malformation / cardiopathy - Dry / squaly skin / exfoliation - Facial pain / cephalalgia / migraine - Failure to thrive / difficulties for feeding in infancy[csbg.cnb.csic.es] impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond[rarediseases.info.nih.gov] face Angiolipoma Angioma hereditary neurocutaneous Angiomatosis encephalotrigeminal Angiomatosis leptomeningeal capillary - venous Angiomatosis systemic cystic Seip syndrome[statemaster.com]

  • Autosomal Recessive Pachydermoperiostosis 

    impairment.[doi.org] […] and coarse facial skin, subperiosteal bone formation in the long bones, and joint abnormalities, including effusion and deformities.[doi.org] His blood pressure was normal, and his outer appearance seemed to indicate acromegaly since the contour of the jaw was enlarged and long making his face appear coarse.[archivesofrheumatology.org]

  • Phakomatosis Pigmentokeratotica

    PubMed CrossRef Google Scholar Onsun N, Inandirici A, Kural Y, Teker C, Atilganoglu U (2007) Phakomatosis pigmentovascularis type II b with bilateral hearing impairment.[link.springer.com] . – Salon Méditerranée Management of Giant Naevi of the Face: Review of 44 Cases Treated by Full Thickness Skin Graft, in One Stage or after Expansion 16:50 Clemens Schiestl[cmnexperts.org] face - Diabetes mellitus - Dysplastic / thick / grooved fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hirsutism / hypertrichosis / Increased[csbg.cnb.csic.es]

  • Mucopolysaccharidosis 3

    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[rarediseases.info.nih.gov] 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] Other symptoms include: Behavioral problems Coarse facial features Diarrhea Full lips Heavy eyebrows that meet in the middle of the face above the nose Sleep difficulties[mpssociety.org]

  • Xeroderma Pigmentosum

    Some patients have associated neurologic defects such as mental deficiency, areflexia, impaired speech and hearing, convulsions and microcephaly.[medcaretips.com] […] that may be thick, crusty, or scaly) XP patients do not have a common facial appearance, with the exception of XP-CS patients.[forgottendiseases.org] face, neck, upper chest, upper back, and bilateral upper arms.[karger.com]

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