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75 Possible Causes for Hearing Impairment, Macroglossia, 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] Common signs and symptoms include a large head, full lips, large rounded cheeks, a broad nose, hoarse voice and an enlarged tongue (macroglossia).[symptoma.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] […] ankylosis of temporomandibular joint, infiltration of pharyngeal tissues and tracheal cartilages, intraluminal narrowing of the conductive airways and excessive secretions, macroglossia[joacp.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] Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition.[symptoma.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] […] features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA[connects.catalyst.harvard.edu]

  • Congenital Hypothyroidism

    impairment in our patients with CH.[ncbi.nlm.nih.gov] The symptoms of congenital hypothyroidism may include the following: Puffy face Coarse facial features Dull look Thick protruding tongue Poor feeding Choking episodes Constipation[health.cvs.com] Coarse facies, macroglossia, constipation, and short trunk may become evident either during or beyond the neonatal period.[currentpediatrics.com]

  • 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] She had the characteristic short fifth digits (Fig. 1), a short neck, thick lips, and macroglossia (Fig. 2 and 3). Airway assessment was Mallampati class 3.[journals.lww.com]

  • 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] , sporadic or AD Tumours - hepatoblastoma, Wilms tumour, Neuroblastoma, Rhabdomyosarcoma Overgrowth - Exomphalos, Macroglossia, Gigantism Renal malformations Centrofacial[brainscape.com]

  • 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] 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] […] less severe and present during early childhood and are characterized by the following signs and symptoms: Macrocephaly and hydrocephalus Distinctive facial features and macroglossia[centogene.com]

  • Woodhouse Sakati Syndrome

    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] […] lipodystrophy Congenital muscular dystrophy type 1A Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Dextrocardia Peters plus syndrome Macroglossia[checkrare.com]

  • Congenital Macroglossia

    impairment Neonatal hypotonia Hypsarrhythmia Tented upper lip vermilion Elevated alkaline phosphatase Epileptic spasms Abnormality of the face Prolonged neonatal jaundice[mendelian.co] : Thick Facial dysmorphism Palpebral fissures & Mouth: Small & Short Maxillary hypoplasia Prognathism Short philtrum Skeletal Short tubular bones: Hands & Feet Short stature[neuromuscular.wustl.edu] Therefore it was diagnosed as congenital muscular macroglossia.[kjorl.org]

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