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348 Possible Causes for Coarse Facial Features, Hearing Impairment, Hirsutism

  • Mucopolysaccharidosis

    During 36 months of ERT, symptoms typical of MPS VI including short stature, progressive dysmorphic facial features, hepatosplenomegaly, hearing impairment, corneal clouding[ncbi.nlm.nih.gov] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[orpha.net]

  • Mucopolysaccharidosis 2

    The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] Additional dermatological findings include hypertrichosis, thickened skin, and multiple Mongolian spots. Hypertrichosis may result in synophrys.[emedicine.medscape.com]

  • Mucopolysaccharidosis 1

    Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[orpha.net]

  • Mucopolysaccharidosis 6

    Abstract Objective The aim of our study is to reflect hearing impairment of 23 children diagnosed with mucopolysaccharidosis (MPS) type I, II, III and IV.[elsevier.es] Presentation Patient with coarse facial features, cardiac murmure, gibbus and dental decay.[radiopaedia.org] [rarediseases.org] Skin Hirsutism Patients with MPS III are mentally retarded with severe hirsutism and synophrys.[symptoma.com]

  • Mucopolysaccharidosis 1H

    […] 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] Affected individuals exhibit severe mental retardation , clouding of the corners of the eyes, deafness , hirsutism (hairiness), enlarged liver and spleen , dwarfism with hunched[britannica.com] Hearing impairment. Mental retardation. Inguinal hernias. Joint stiffness and skeletal deformities Coronary heart disease. Hepatosplenomegaly.[medigoo.com]

  • Mucopolysaccharidosis 7

    Features of MPS VII are large head coarse facial features large tongue enlarged liver and spleen heart valve abnormalites umbilical hernia may have narrow airways cloudy cornea[ldnz.org.nz] Patient had virilization of the external genitalia with hirsutism and masculine voice. Patient had ambiguous genitalia.[joacp.org] impairment, sleep apnoea, hydrocephalus, carpal tunnel syndrome, spinal cord compression and cervical myelopathy.[touchneurology.com]

  • Mucopolysaccharidosis 1 H-S

    Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally[scopemed.org] Other manifestations may include organomegaly, hernias and hirsutism.[orpha.net]

  • 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] 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] The stiff joints, hirsuteness and coarse hair typical of other mucopolysaccharidoses are usually not present until late in the disease.[checkorphan.org]

  • Lytic Bone Lesion

    Clinically, all neonates are hearing impaired from birth and develop diffuse PPK in childhood. Leukonychia and hyperkeratoses over the joints of the hand also appear.[emedicine.medscape.com] On general physical examination, the patient was pale with coarse facial features, sebaceous hyperplasia and furrowing of forehead (Fig 1).[japi.org] hypertrichosis / Increased body hair - Hyperextensible joints / articular hyperlaxity - Hypoplastic mandibula / partial absence of the mandibula - Macrocephaly / macrocrania[csbg.cnb.csic.es]

  • Fabry Disease

    Configuration of hearing loss was classified according to the European Working Group on Genetics of Hearing Impairment.[ncbi.nlm.nih.gov] Often patients have slight builds with characteristic coarse facial features and delayed puberty.[patient.info] Barnes , CONGENITAL PORPHYRIA, HYDROA AESTIVALE AND HYPERTRICHOSIS IN A SOUTH AFRICAN BANTU , The Lancet , 256 , 6643 , (846) , (1950) .[doi.org]

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