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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[ncbi.nlm.nih.gov] 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[amhsr.org] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch]

  • Mucopolysaccharidosis

    […] failure originating mainly from valve disease.[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] 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[emedicine.medscape.com]

  • 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[mps1disease.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] , 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[tandfonline.com]

  • 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] 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[synapse.koreamed.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]

  • 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.[ncbi.nlm.nih.gov] Affected children have significantly higher chance of having congenital heart disease (CHD) than the general population.[icvts.oxfordjournals.org] His mother had minor abnormalities of the hands and feet, and slight mental retardation.[ncbi.nlm.nih.gov]

  • 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[angelfire.com] We report on a boy with ichthyosis, dysmorphic features and mental retardation with ADHD.[ncbi.nlm.nih.gov] Six siblings are alive and all are mentally retarded. The mother is borderline retarded.[ncbi.nlm.nih.gov]

  • 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[malacards.org] […] malformations, Hypothyroidism, congenital nongoitrous, NODAL Heterotaxy, visceral NOTCH1 Aortic valve disease NOTCH2 Alagille syndrome, Hajdu-Cheney syndrome TBX1 Conotruncal[genda.com.ar] Laplane Fontaine Lagardere syndrome Laron Syndrome GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Laron syndrome type 2 Megaepiphyseal dwarfism Mental retardation, macrocephaly[sites.google.com]

  • Trisomy 20p

    A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment[ncbi.nlm.nih.gov] disease (unspecified) Trisomy 18 (Edwards syndrome) Bicuspid aortic valve, pulmonary stenosis, ventricular septal defect, atrial septal defect, atrioventricular septal defect[radiologykey.com] 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[ncbi.nlm.nih.gov]

  • 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.[dailyrecord.co.uk] Associations with convulsions, heart valve disease, systemic hypertension, and renal impairment have been described.[ncbi.nlm.nih.gov] Sneddon is also linked with an increased risk of high blood pressure, kidney problems, heart valve disease and dementia.[bhf.org.uk]

  • Marfan Syndrome

    In 2013, a strange and creepy screen test started making the rounds in Hollywood.[hollywoodreporter.com] 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...[medicinenet.com] Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.[emedicine.com]

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