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330 Possible Causes for Hurler Syndrome, Macroglossia

  • Mucopolysaccharidosis 6

    […] usually have normal intellectual development but share many of the physical symptoms found in Hurler syndrome .[] [] Jaw & Teeth Macroglossia . , , , , , Source MeSH Alveolar Process Child Consanguinity Dentigerous Cyst Gingival Hyperplasia Humans Macroglossia Male Mouth[] […] and that is similar to Hurler syndrome except that intellectual development is not retarded Learn More about Mar o teaux - La my syndrome Resources for Mar o teaux - La my[]

  • Mucopolysaccharidosis

    […] mutations that cause MPS IH (Hurler syndrome), MPS IS (Scheie syndrome), and MPS I-HS (Hurler-Scheie syndrome), among others.[] However, access to secure the airway and for conventional surgery can be challenging, due to limited neck extension, macroglossia and reduced mouth opening.[] […] hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[]

  • Beckwith-Wiedemann Syndrome

    Its most common feature is macroglossia, being present in most cases. Clinically macroglossia can compromise the airway, cause dysphagia, drooling and poor cosmesis.[] Beckwith Wiedemann syndrome (BWS) is a rare, congenital overgrowth disorder that is characterized by macroglossia, anterior abdominal wall defects, visceromegaly, gigantism[] Silver-Russell Syndrome Macroglossia Hernia, Umbilical Genes, Wilms Tumor[]

  • Fucosidosis

    Syndrom (MPS I-H) α-L-Iduronidase 4q16.3 1:175.000 Scheie-Krankheit (MPS I-S) α-L-Iduronidase 4q16.3 1:500.000 Hurler-Scheie-Syndrom (MPS I-H/S) α-L-Iduronidase 4q16.3 1:[] […] features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA[] Her tongue was protruding due to macroglossia. There were red streaks on gingivae and blue-brown spots on tongue. She had no angiokeratomas in genital area and trunk.[]

  • Mucopolysaccharidosis 1

    STUDY DESIGN: A retrospective radiographical follow-up study of thoracolumbar deformity in 33 children with mucopolysaccharidosis 1 (Hurler syndrome).[] Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition.[] […] hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[]

  • Mucopolysaccharidosis 2

    Applies To Gargoylism Hunter's syndrome Hurler's syndrome Lipochondrodystrophy Maroteaux-Lamy syndrome Morquio-Brailsford disease Osteochondrodystrophy Sanfilippo's syndrome[] Common signs and symptoms include a large head, full lips, large rounded cheeks, a broad nose, hoarse voice and an enlarged tongue (macroglossia).[] 日本語 英語 備考 ムコ多糖症 ムコ多糖体症【先天】 mucopolysaccharidosis I型 ムコ多糖症I型 mucopolysaccharidosis I 【同】ハーラー症候群 Hurler's syndrome 【同】ハーラー病 Hurler's disease 【同】ファンドラー・ハーラー症候群 Pfaundler-Hurler[]

  • Mucopolysaccharidosis 7

    The clinical features were similar to those of the Hurler syndrome or mucopolysaccharidoses type I (McKusick 1966).[] […] large head ( macrocephaly ), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as " coarse ," and a large tongue ( macroglossia[] MPS I has been recently classified into a severe (Hurler syndrome) and an attenuated type (Hurler-Scheie and Scheie syndromes).[]

  • Tongue Amyloidosis

    […] hypothyroidism 9 Beckwith-Wiedemann syndrome 3 Lhermitte-Duclos disease 12 mucopolysaccharidoses 2 type IH: Hurler syndrome type VI: Maroteaux-Lamy syndrome 5 Urbach-Wiethe[] 0 comments, 0 ratings Abstract: Amyloidosis (AL) is a well recognized cause of macroglossia.[] Discussion: While macroglossia is thought to be pathognomonic of AL amyloidosis, we report a case of macroglossia with fibrillar ATTR amyloid deposits diagnosed by immuno-electron[]

  • Congenital Macroglossia

    Macroglossia can occur in in a number of conditions, as follows: Down's syndrome Beckwith-Wiedemann syndrome Hurler's syndrome endocrine disturbances such as acromegaly or[] Abstract We describe seven patients from two Mexican families with congenital macroglossia.[] […] hygroma, Down syndrome, ectopic thyroid, glycogen storage disease, type II–Pompe's disease, hemangioma–of tongue, Hurler syndrome, intestinal duplication, lymphangioma, mannosidosis[]

  • Mucopolysaccharidosis 1S

    The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis. 2008. 3: 24- 18.[] […] hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[] There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly[]

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