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452 Possible Causes for Macroglossia, Mental Retardation, Round Face

  • Mucopolysaccharidosis 2

    Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch] […] 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] 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

    However, access to secure the airway and for conventional surgery can be challenging, due to limited neck extension, macroglossia and reduced mouth opening.[ncbi.nlm.nih.gov] The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[ncbi.nlm.nih.gov] […] hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[ghr.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] Additional symptoms may occur including overgrowth (hypertrophy) of the muscles of the legs, an abnormally enlarged tongue (macroglossia), weakness and wasting (atrophy) of[rarediseases.org] Additional features include moderate hepatomegaly and macroglossia.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition.[symptoma.com] […] hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[ghr.nlm.nih.gov]

  • Duchenne Muscular Dystrophy

    I couldn’t face another procession of sad phone calls. But, of course, I had to. ‘Nick called his parents, who lived close by, and his dad came round at once.[dailymail.co.uk] This article describes the complex orthodontic treatment of a 22-year-old patient with Duchenne muscular dystrophy and macroglossia.[ncbi.nlm.nih.gov] Some patients also have mild mental retardation. As DMD progresses, a wheelchair may be needed.[medterms.com]

  • Down Syndrome

    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] Dental malocclusion and macroglossia are associated. Technical modifications to increase macroglossia surgery safety and efficacy have been described.[doi.org] Abstract Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language[oadoi.org]

  • Chromosome 18p Deletion Syndrome

    […] 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] Alongside the commoner signs of the disorder such as IgA deficit, macroglossia, clinodactylism, lid drop, strabismus and slight mental retardation, the young patient also[minervamedica.it] Knight Karger Medical and Scientific Publishers, 15.02.2010 - 178 Seiten This remarkable publication focuses on the importance of genetics in mental retardation, investigating[books.google.de]

  • Mandibulofacial Dysostosis

    The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares,[ncbi.nlm.nih.gov] Follow-up of these patients revealed growth and mental retardation, and severe language and speech delay.[ncbi.nlm.nih.gov] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Scoliosis Abnormal curving of the spine 0002650 Short palm 0004279 Short phalanx of finger[rarediseases.info.nih.gov]

  • Neurofibromatosis Type 1

    All patients with uncontrolled seizures had severe mental retardation, and three of these had malformations of cortical development.[ncbi.nlm.nih.gov] Neurofibromas may be soft, or firm and round. Lisch nodules can also occur. These are very small brown spots that may appear in the iris of the eye.[medicalnewstoday.com] […] because of a grossly distorted anatomy. 113 However, successful intubation after inhalation anaesthesia with sevoflurane has been described. 107 In addition, the presence of macroglossia[academic.oup.com]

  • Beckwith-Wiedemann Syndrome

    They also noted persistent physical differences, including prominent occiput, prominent forehead, round face with full cheeks, deep-set eyes with epicanthic folds, hypertelorism[ncbi.nlm.nih.gov] Its most common feature is macroglossia, being present in most cases. Clinically macroglossia can compromise the airway, cause dysphagia, drooling and poor cosmesis.[ncbi.nlm.nih.gov] Clinically, the patient presented with mild mental retardation and minor physical anomalies.[ncbi.nlm.nih.gov]

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