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166 Possible Causes for Heart Valve Disease, Retinal Degeneration, 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] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[symptoma.com]

  • Mucopolysaccharidosis

    […] failure originating mainly from valve disease.[ncbi.nlm.nih.gov] degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com] Many affected individuals also have heart disease, often involving enlarged or diseased heart valves.[en.wikipedia.org]

  • 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] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.com] , 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] Degeneration (Marie Ataxia] Spondyloepiphyseal dysplasia congenita (SEDC).[neurometplus.com]

  • Spondyloepiphyseal Dysplasia Type Cantú

    degeneration - nanophthalmos - glaucoma1278 Brain calcification, Rajab type 8 cases 1574 Retinohepatoendocrinologic syndrome 7 cases178506 Campomelia, Cumming type 8 cases[fliphtml5.com] […] malformations, Hypothyroidism, congenital nongoitrous, NODAL Heterotaxy, visceral NOTCH1 Aortic valve disease NOTCH2 Alagille syndrome, Hajdu-Cheney syndrome TBX1 Conotruncal[genda.com.ar] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org]

  • Stickler Syndrome Type 2

    Most also have a characteristic face with flat cheekbones.[dbproject.mn.org] MODE OF INHERITANCE: autosomal dominant Aortic valve disease is the most common form of valvular heart disease.[chginc.org] degeneration and detachment.[checkorphan.org]

  • Best Disease

    Best disease, also known as vitelliform macular dystrophy, is an inherited form of retinal degeneration affecting the portion of the retina known as the macula.[fightingblindness.ie] […] even taking warfarin Dilated left atrium 4 cm Fontan heart even taking warfarin Cyanotic heart disease even taking warfarin Pulmonary arteriovenous malformation Past thromboembolic[circ.ahajournals.org] The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.[en.wikipedia.org]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    face Full cheeks Spastic gait Aspiration Broad neck Hypomimic face Strabismus Recurrent respiratory infections Feeding difficulties Hyperactivity Neonatal hypotonia Prominent[mendelian.co] Valvular Heart Disease is now an even better source for all your questions on dysfunctions or abnormalities of the heart's four valves.[books.google.de] Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life.[icd9data.com]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de] NOS3 VEGFA Heart Valve Diseases C6 NOTCH1 Language Development Disorders ERF Learning Disorders VEGFA Uterine Fibroid SMAD3 Leukemia AR Chronic Lymphocytic Leukemia TP53[selfdecode.com] Degeneration Endocrine-Cerebroosteodysplasia Epilepsy , Progressive Myoclonic , 9 Epileptic Encephalopathy , Early Infantile, 1 Facial Asymmetry-Temporal Seizures Syndrome[familydiagnosis.com]

  • Osteogenesis Imperfecta

    […] severity • Similar in appearance and symptoms to Type IV Type VII: • Some cases resemble Type IV and others Type II, except that infants have white sclera, small heads and round[choc.org] Wood SJ, Thomas J, Braimbridge MV (1973) Mitral valve disease and open heart surgery in osteogenesis imperfecta tarda.[doi.org] Thierry Léveillard and Laurence Klipfel , Mechanisms Underlying the Visual Benefit of Cell Transplantation for the Treatment of Retinal Degenerations , International Journal[doi.org]

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