Create issue ticket

761 Possible Causes for Cardiomyopathy, Round Face, Scoliosis

  • Congenital Muscular Dystrophy

    cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively.[ncbi.nlm.nih.gov] CONCLUSIONS: The natural history of scoliosis, respiratory function and walking ability in UCMD patients were characterised.[ncbi.nlm.nih.gov] KEYWORDS: Fukuyama congenital muscular dystrophy; Scoliosis; Spinal fusion[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly Cardiomyopathy[symptoma.com] Figure 2: showing dorso lumbar scoliosis with anterior breaking at D12, L1,2,3 with ovoid shaped vertebra. Figure 3: shows X ray skull with calvarial thickening.[omicsonline.org] […] 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]

  • Mucopolysaccharidosis

    Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[ncbi.nlm.nih.gov] The patient was a 17-year-old girl with growth retardation, hearing loss, and severe skeletal dysplasia(scoliosis and chicken breast), and was evaluated to have normal nervous[ncbi.nlm.nih.gov] […] 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[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com] Bone deformities like kyphosis or gibbus, scoliosis, genu valgum, pes cavus have been described and may cause gait disturbances.[symptoma.com]

  • 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[ncbi.nlm.nih.gov] One of them showed severe scoliosis. After hospitalization chest CT scan revealed extensive pulmonary bilateral segmental atelectasis.[ncbi.nlm.nih.gov] 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.[dailymail.co.uk]

  • Cri Du Chat Syndrome

    To determine the most appropriate treatment for the scoliosis associated with cri-du-chat syndrome, the characteristics and natural course of the scoliosis should be clarified[ncbi.nlm.nih.gov] It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure An infantile syndrome characterized[icd9data.com] face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia.[ncbi.nlm.nih.gov]

  • Barth Syndrome

    Barth Syndrome - X-linked Cardiomyopathy and Neutropenia Richard I.[web.archive.org] : Malformed bones of the vertebrae (spine), such as fused bones The malformed spine bones cause the spine to curve outward ( kyphosis ), inward (lordosis), or sideways ( scoliosis[verywellhealth.com] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org]

  • 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.[clinicaladvisor.com] The literature dealing with scoliosis surgery in PWS consists of only few case reports.[ncbi.nlm.nih.gov] (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com]

  • Alstrom Syndrome

    Parental screening echocardiograms revealed no evidence of clinically silent dilated cardiomyopathy.[ncbi.nlm.nih.gov] […] truncal obesity, insulin resistance, type 2 diabetes mellitus, renal and hepatic dysfunction, hyperlipidemia, hypothyroidism, mental retardation, acanthosis nigricans, and scoliosis[ncbi.nlm.nih.gov] 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[symptoma.com]

  • Velocardiofacial Syndrome

    Scoliosis has been mentioned but not emphasized as a common feature.[journals.lww.com] VFCS typically presents with abnormal shapes of structures in the face; with cleft palate, a term for incomplete fusion of the palate causing feeding problems.[symptoma.com] In addition examination revealed micrognathia and scoliosis.[ncbi.nlm.nih.gov]

Similar symptoms