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574 Possible Causes for Hearing Problem, Mental Retardation, Round Face

  • Mucopolysaccharidosis 2

    Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly.[patient.info] […] 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] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch]

  • Mucopolysaccharidosis

    However, they may present with a variety of physical problems. These may include joint stiffness, heart problems, corneal clouding and hearing loss.[luriechildrens.org] 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] People with MPS IVB can have lots of problems. They can have skeleton, heart, vision and dental problems, hearing loss, growth deficiency and short stature.[thinkgenetic.com]

  • Mucopolysaccharidosis 1

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] The onset of symptoms usually occurs in early childhood, causing problems of otitis media, hearing loss and airway obstruction in the ENT area.[elsevier.es]

  • Mandibulofacial Dysostosis

    This can cause hearing problems if the ear's internal structures are also underdeveloped.[thesun.co.uk] 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]

  • Down Syndrome

    They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton.[medlineplus.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] 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

    Cleft lip and palate may lead to dental, hearing, speech, and feeding problems.[justjamesinfo.wordpress.com] […] 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] 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]

  • Smith-Magenis Syndrome

    Treatment for vision problems and hearing problems may be needed. Sleep therapy and/or medication may be needed to help improve sleep patterns and quality of sleep.[thinkgenetic.com] The characteristic face of Smith-Magenis syndrome is round or square with a flattened midface. The eyes slant upwards and are relatively close set.[jmg.bmj.com] Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct facial[ncbi.nlm.nih.gov]

  • Propionic Acidemia

    , hearing loss, optic atrophy, skin rash, and alopecia.[docslide.us] It’s not detailed enough to round with 1. Open or select the patient(s) you want 2.[slidex.tips] Early OLT may limit the development of mental retardation and/or cardiomyopathy.[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    […] and respiratory problems.[healthline.com] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardation, white matter changes and subtle structural abnormalities on brain MRI.[ncbi.nlm.nih.gov]

  • Prader-Willi Syndrome

    Sadly we still hear of people dying in their 20s and 30s, although the oldest person known to have the syndrome was 74 when she died.[easo.org] (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[fpnotebook.com]

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