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64 Possible Causes for Hearing Impairment, Short Stature in Children, Thick Facial Skin

  • Mucopolysaccharidosis 2

    The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.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 signs and symptoms may include abnormal facial features, cloudy corneas, abnormal development of spine, heart valve defects, and short stature in children A healthcare[dovemed.com]

  • 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] Affected children have a short stature and suffer from hepatosplenomegaly, a condition characterized by an enlarged liver and spleen.[patienthelp.org]

  • Mucopolysaccharidosis 1

    Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[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] impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may include the following[emedicine.medscape.com]

  • Fucosidosis

    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] 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] impairment Deafness Hearing defect [ more ] 0000365 Hepatomegaly Enlarged liver 0002240 Hyperhidrosis Excessive sweating Increased sweating Profuse sweating Sweating Sweating[rarediseases.info.nih.gov]

  • Cerebral Palsy

    impairment, gastro-oesophageal reflux and constipation, learning and behavioural difficulties) which require close multi-disciplinary teamwork.[discovery.ucl.ac.uk] Side effects from medications include: xerostomia, thick mucoid secretions, dehydration, urinary retention, urinary tract infections, constipation, facial flushing, skin rash[doi.org] […] puberty and one for short stature, in whom investigations identified MPHD.[ncbi.nlm.nih.gov]

  • Coffin-Lowry Syndrome

    Audiological tests revealed profound hearing impairment. Anomalous labyrinths were shown by CT scan of the temporal bones.[ncbi.nlm.nih.gov] Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth.[medicinenet.com] Abstract A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short[ncbi.nlm.nih.gov]

  • Growth Hormone Deficiency

    The goal of this study is to evaluate the prevalence, type, and severity of hearing impairment in children with GHD.[ncbi.nlm.nih.gov] However, a nice side benefit is that growth hormone also increases the thickness of the skin.[drmarinajohnson.com] Short stature is one of the clinical manifestations in these children.[ncbi.nlm.nih.gov]

  • 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] In group D showing children of short stature, brittle hair and low intelligence, in Group C will get ataxia.[flipper.diff.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] In children, growth rates may be slow, ultimately resulting in short stature. Affected individuals may be prone to fractures.[rarediseases.org]

  • 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.[phoenixnestbiotech.com] Only 2 pathogenic variants have been reported for the HYAL1 gene: Missense mutation c.802G A; p.E268K reported in association with short stature phenotype 35 Small deletion[centogene.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]

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