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385 Possible Causes for Hearing Impairment, Round Face, Umbilical Hernia

  • Mucopolysaccharidosis 2

    The boy’s past history included an umbilical hernia ( Figure 2 ) and chronic otitis media requiring myringotomy tube insertion and adenoidectomy, with conductive hearing loss[consultant360.com] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[news-medical.net] 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] Early signs and symptoms of MPS II include ear/sinus infections and umbilical hernia, behavioral disturbance, and skeletal anomalies.[centogene.com]

  • Mucopolysaccharidosis 1

    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] The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[news-medical.net]

  • Inguinal Hernia

    See also the section specifically on Umbilical Hernias.[hernia.org] It has a roof facing anteriorly, a floor facing posteriorly, a superior (cranial) wall, and an inferior (caudal) wall.[emedicine.medscape.com] Umbilical Hernias Occur near the bellybutton or navel, which has a natural weakness from the blood vessels of the umbilical cord.[houstonhernia.com]

  • Chromosome 18p Deletion Syndrome

    hernia (7%) Coloboma (4%) Eczema (4%) Inguinal hernia (4%) Large protruding forehead (4%) Dysplastic teeth (4%) Delayed fontanel closure (4%) Chorea (3%) Low posterior hairline[en.wikibooks.org] Two cases with impaired hearing are presented in this paper including one case with complex external ear and middle ear malformations.[cambridge.org] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org]

  • Kniest Dysplasia

    hernia 0001537 Showing of 53 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov] Recurrent otitis media may lead to conductive hearing impairment or hearing loss.[symptoma.com] The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[zfin.org]

  • Down Syndrome

    We report a patient with non-Down syndrome AML, also known as AMKL, with monosomy 7, who was also obese and had a hearing impairment and mental retardation.[ncbi.nlm.nih.gov] Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] The management of significant co-morbidities in children with DS can delay initial diagnosis of hearing impairment and assessment of suitability for CI can likewise be challenging[ncbi.nlm.nih.gov]

  • Marshall-Smith Syndrome

    hernia Causes No specific gene has been linked to Marshall-Smith syndrome and other genetic background is still not yet known.[medigest.uk] impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Generalized hirsutism Excessive hairiness over body 0002230 Hypertelorism Wide-set eyes Widely spaced[rarediseases.info.nih.gov] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net]

  • Robinow Syndrome

    Umbilical hernia (32.3%) and supernumerary teeth (10.3%) were found exclusively in patients with the dominant form. (c) 2007 Wiley-Liss, Inc.[ncbi.nlm.nih.gov] Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome.[thritajournal.com] Facial Abnormalities Rounded face with a broad forehead Widely spaced eyes (hypertelorism) Drooping of the eyelids (ptosis) Downwardly slanting eyelid folds Small nose with[medcaretips.com]

  • High Myopia-Sensorineural Deafness Syndrome

    (born with a hernia of the diaphragm) and/ or omphalocele (an umbilical hernia).[musicboys.wordpress.com] […] versus risk; deaf and hard of hearing versus hearing impaired.[nature.com] The facial features of Marshall Syndrome include a flat midface, the appearance of large eyes, short upturned nose, and a round face.[wikidoc.org]

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