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77 Possible Causes for Hearing Impairment, Splenomegaly, Thick Facial Skin

  • Mucopolysaccharidosis 2

    Individuals with this disorder may experience the following signs: abnormal retina, heart murmur and leaky heart valves, enlarged liver (hepatomegaly) enlarged spleen (splenomegaly[] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[] Patients with MPS II typically exhibit systemic manifestations including a short stature, a specific facial appearance, dysostosis multiplex, a thick skin, inguinal hernia[]

  • Mucopolysaccharidosis 1H

    Cardiac (Valvular) Disease Recurrent Ear, Nose, and Throat Infections Obstructive Airway Disease/Sleep Apnea Corneal Clouding Spinal Cord Compression Hepatosplenomegaly/Splenomegaly[] Hearing impairment. Mental retardation. Inguinal hernias. Joint stiffness and skeletal deformities Coronary heart disease. Hepatosplenomegaly.[] […] 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[]

  • Fucosidosis

    […] the symptoms are usually classified as: Type I (also called severe) begins in the first 3-18 months of life coarse facial features enlarged liver (hepatomegaly), spleen (splenomegaly[] Other signs related to fucosidosis include visceromegaly that can affect the spleen, liver, and heart, epilepsy, hearing impairment or total hearing loss, kyphoscoliosis,[] The primary symptoms of Fucosidosis – Type 1 include developmental delays, mental retardation, overall weakness, poor muscle tone, thick skin, rough facial features and excessive[]

  • Mucopolysaccharidosis 3

    […] loss [ 30 ], decreased pulmonary function and obstructive sleep apnoea [ 31 ], frequent and recurrent respiratory infections, cardiac disease [ 32 , 33 ], hepatomegaly and splenomegaly[] Prominent foreheads, large head circumferences, Coarse thick hair, bushy eyebrows, Thick skin, Full lips, Low thick ears, Low nasal bridge, Full round bellies.[] 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[]

  • Lytic Bone Lesion

    […] carinatum - Peripheral neuropathy - Polycystic kidneys - Repeat respiratory infections - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Splenomegaly[] impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond[] Systemic involvement of variable degree is frequent, manifesting with hepatic fibrosis or angiosarcoma of the liver, splenomegaly, portal hypertension, thrombocytopenia, and[]

  • Mucopolysaccharidosis 1

    Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[] Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[]

  • Phakomatosis Pigmentokeratotica

    Pink urine, red teeth, splenomegaly and anemia Rothmund–Thomson syndrome Compound heterozygous mutation in the DNA helicase gene RECQL4 Poikiloderma, alopecia, atrophic nails[] PubMed CrossRef Google Scholar Onsun N, Inandirici A, Kural Y, Teker C, Atilganoglu U (2007) Phakomatosis pigmentovascularis type II b with bilateral hearing impairment.[] . – 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[]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    A case of splenomegaly in CBL syndrome.[] Sensorineural hearing impairment was present at birth. His growth pattern was normal, but he had a delayed puberty.[] […] folds of the upper eyelid that partially cover the inner corners of the eyes) and thick or droopy eyelids The facial features of Noonan syndrome may change considerably with[]

  • Lenz-Majewski Syndrome

    Clinical Information Notes: Osteopetrosis: Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and[] impairment 0000407 Short stature Decreased body height Small stature [ more ] 0004322 Sparse hair 0008070 Sporadic No previous family history 0003745 Syndactyly Webbed fingers[] Lenz-Majewski-Like Syndrome: Mesoectodermal dysplasia with macrocephaly, specific facial features (exophthalmos, broad nasal root, anteverted nostrils, large auricles, thick[]

  • Kabuki Syndrome

    There was no hepatomegaly or splenomegaly. Serum liver tests showed total bilirubin 151 μmol/L (normal (8). The search for neonatal hepatitis viruses found none.[] […] features (e.g., arched eyebrows, thick eyelashes, etc.), skeletal abnormalities, and ridges on the skin.[] Recurrent otitis media (12/14) and hearing impairment (8/14) were also more common features.[]

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