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593 Possible Causes for Cardiomyopathy, Kyphosis, Round Face

  • Mucopolysaccharidosis 2

    Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly Cardiomyopathy[] […] 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[] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[]

  • Mucopolysaccharidosis

    Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[] […] and distal junctional kyphosis angles, and the apical vertebral wedge angle.[] […] mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy[]

  • Mucopolysaccharidosis 1

    Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[] An initial kyphosis angle greater than 45 was predictive of progression of more than 10 with sensitivity of 67% and specificity of 88%.[] Currently, no patient has any clinical evidence of cardiomyopathy.[]

  • Barth Syndrome

    Barth Syndrome - X-linked Cardiomyopathy and Neutropenia Richard I.[] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[] […] symptoms of Jarcho-Levin syndrome may include: Malformed bones of the vertebrae (spine), such as fused bones The malformed spine bones cause the spine to curve outward ( kyphosis[]

  • Congenital Muscular Dystrophy

    cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively.[] Additionally, joint mobility continually decreases and patients are prone to develop spinal deformities such as scoliosis, kyphosis and lordosis.[] The type and location of spinal deformity: Thoracic kyphosis: collagen VI-deficient CMD Thoracic lordosis: laminin alpha-2 deficiency, SELENON -related CMD, and L-CMD; late[]

  • Prader-Willi Syndrome

    Right-sided hypertrophic cardiomyopathy is a common complication in young adults with marked obesity, and has been one of the more common causes of mortality in the past.[] (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[] The 4 kyphosis required reoperation, 3 of which were complicated with permanent spinal cord injury. Minor complications affected 6 patients.[]

  • Spondyloepiphyseal Dysplasia Type Cantú

    , myofibrillar MYPN Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) NEXN Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy[] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[] Parastremmatic dwarfism 0 *Dwarfism *Kyphosis *Intellectual Disability *Scoliosis. Brachydactylous dwarfism Mseleni type 0 *Dwarfism *Joint Diseases *Osteoarthritis.[]

  • Alstrom Syndrome

    Parental screening echocardiograms revealed no evidence of clinically silent dilated cardiomyopathy.[] Although growth spurt is normal in early childhood, it plateaus off and individuals with ALMS usually have a short stature, round face, thick ears, frontal alopecia, abnormal[] Musculoskeletal manifestations including scoliosis and kyphosis have been previously described.[]

  • Duchenne Muscular Dystrophy

    She was treated for peripartum cardiomyopathy (PPCM) with angiotensin converting enzyme inhibitors (ACEi), beta-blockers and diuretics with normalisation of her cardiac function[] 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.[] Caution should be used in aggressively correcting kyphosis since the child may use kyphosis to their advantage to get weak hands to their mouth.[]

  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    Defects in LMNA are the cause of cardiomyopathy dilated type 1A (CMD1A) [MIM:115200].[] face congenital retarded development Heart defect tongue hamartoma polysyndactyly Heart defects limb shortening Heart hand syndrome Spanish type Heart hypertrophy, hereditary[] Mullerian hypoplasia associated with mild mental retardation, microcephaly, flat occiput, sparse eyebrows, absence of breast tissue, absent ovaries, mild-moderate dorsal kyphosis[]

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