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254 Possible Causes for Heart Valve Disease, Mental Retardation, Round Face

  • Mucopolysaccharidosis 2

    […] 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[] Cardiovascular features like incompetence of the valves, mitral valve prolapse, ischemic heart disease, and cadiomegaly resulting in heart failure were noted in one case by[] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[]

  • Mucopolysaccharidosis

    […] failure originating mainly from valve disease.[] 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[] disease MPS IS - Aortic valve disease, corneal clouding, and joint stiffness; normal intelligence and stature MPS II (severe) – Pebbly ivory skin lesions on the back, arms[]

  • Mucopolysaccharidosis 1

    Stiffened joints Skeletal (bone) Carpal tunnel syndrome Heart (valve) disease Recurrent upper airway infections Lung disease/sleep apnea Corneal clouding Spinal cord compression[] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[] , it is important to develop alternative methods to approach the unmet needs (i.e. bone disease, heart valve disease, corneal opacity, and central nervous system (CNS) involvement[]

  • 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[] Congenital heart disease (CHD) is estimated to be present in about 10% of these patients. 3 , 4 Here we report a case of patent ductus arteriosus (PDA) in combination with[] Knight Karger Medical and Scientific Publishers, 15.02.2010 - 178 Seiten This remarkable publication focuses on the importance of genetics in mental retardation, investigating[]

  • Aarskog-Scott Syndrome

    Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[] Affected children have significantly higher chance of having congenital heart disease (CHD) than the general population.[] His mother had minor abnormalities of the hands and feet, and slight mental retardation.[]

  • Chondrodysplasia Punctata

    At birth most infants with RCP are recognized to have a round face, high forhead, small, upturned nose, and a long, flat philtrum (area between the upper lip and nose), as[] We report on a boy with ichthyosis, dysmorphic features and mental retardation with ADHD.[] Six siblings are alive and all are mentally retarded. The mother is borderline retarded.[]

  • Spondyloepiphyseal Dysplasia Type Cantú

    : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[] […] malformations, Hypothyroidism, congenital nongoitrous, NODAL Heterotaxy, visceral NOTCH1 Aortic valve disease NOTCH2 Alagille syndrome, Hajdu-Cheney syndrome TBX1 Conotruncal[] Laplane Fontaine Lagardere syndrome Laron Syndrome GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Laron syndrome type 2 Megaepiphyseal dwarfism Mental retardation, macrocephaly[]

  • Trisomy 20p

    A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment[] disease (unspecified) Trisomy 18 (Edwards syndrome) Bicuspid aortic valve, pulmonary stenosis, ventricular septal defect, atrial septal defect, atrioventricular septal defect[] A mentally retarded boy with multiple malformations was found to have trisomy for the distal two-thirds of the short arm of chromosome 20 (trisomy 20p), resulting from a paternal[]

  • Sneddon's Syndrome

    “They call it Moon Face because your face appears very round and colloquially they call it ‘ugly disease’ because people who have it all look like ugly twins.[] Associations with convulsions, heart valve disease, systemic hypertension, and renal impairment have been described.[] Sneddon is also linked with an increased risk of high blood pressure, kidney problems, heart valve disease and dementia.[]

  • Marfan Syndrome

    In 2013, a strange and creepy screen test started making the rounds in Hollywood.[] Heart Valve Disease Heart valve disease occurs when the heart valves do not work the way they should. Symptoms of valve disease include shortness of...[] Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.[]

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