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160 Possible Causes for Hearing Impairment, Short Stature, Thick Facial Skin

  • Mucopolysaccharidosis 2

    MPS IVB is characterized by skeletal changes, including short stature and skeletal dysplasia.[centogene.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] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com]

  • Coffin-Lowry Syndrome

    Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism[ncbi.nlm.nih.gov] 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]

  • Mucopolysaccharidosis 1H

    Other causes of general learning disability and short stature.[patient.info] 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]

  • Mucopolysaccharidosis 1

    Although coarse facial features, short stature, skeletal dysplasia reminiscent of dysostosis multiplex, cardiac and respiratory disease as well as corneal clouding are universal[symptoma.com] 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]

  • Fucosidosis

    At age 12, he could not walk without help; he was admitted to the hospital with intellectual disability, short stature and coarse facial features.[ncbi.nlm.nih.gov] 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]

  • Mucopolysaccharidosis 3

    MPS IVB is characterized by skeletal changes, including short stature and skeletal dysplasia.[centogene.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] 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]

  • Lytic Bone Lesion

    Clinical manifestations include: transverse band of acro-osteolysis involving the phalanges of both hands and feet, severe osteoporosis short stature, deformities involving[iofbonehealth.org] […] 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]

  • Woodhouse Sakati Syndrome

    Case report; In a 52-year-old woman from a consanguine pedigree we observed mental retardation, short stature, alopecia with absence of eyebrows, hypogonadism, primary amenorrhea[bib.irb.hr] The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance.[ncbi.nlm.nih.gov] […] patches of thick, darker, velvety skin .[maria-online.com]

  • Phakomatosis Pigmentokeratotica

    […] hand / brachydactyly - Short stature / dwarfism / nanism - Thick skin / pachydermia / orange skin - Thyroid anomalies Occasional - Abnormal / polycystic ovaries - Megaureter[csbg.cnb.csic.es] 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]

  • Baraitser Syndrome

    As a result of prenatal and postnatal growth retardation, most of these patients have a short stature.[ijpd.in] All cases had failure to thrive, microcephaly, ear dysplasia, laryngomalacia, hearing impairment, gastro-esophageal reflux disease, constipation, abnormal dentition, dermatitis[ncbi.nlm.nih.gov] The characteristic facial features of NCBRS include a triangular face, deep-set eyes, a thin nasal bridge, wide nostrils, a pointed nasal tip, and a thick lower lip.[thinkgenetic.com]

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