Create issue ticket

848 Possible Causes for Cardiomyopathy, Round Face, Short Stature

  • Mucopolysaccharidosis 2

    MPS IVB is characterized by skeletal changes, including short stature and skeletal dysplasia.[centogene.com] Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly Cardiomyopathy[symptoma.com] […] 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

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[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

    Although coarse facial features, short stature, skeletal dysplasia reminiscent of dysostosis multiplex, cardiac and respiratory disease as well as corneal clouding are universal[symptoma.com] Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Currently, no patient has any clinical evidence of cardiomyopathy.[adc.bmj.com]

  • Barth Syndrome

    Barth syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia.[ncbi.nlm.nih.gov] Barth Syndrome - X-linked Cardiomyopathy and Neutropenia Richard I.[web.archive.org] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org]

  • Congenital Muscular Dystrophy

    Abstract We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of congenital muscular dystrophy (CMD) in association with short stature, proximal contractures[ncbi.nlm.nih.gov] cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively.[ncbi.nlm.nih.gov] Altogether these data demonstrate that mutations in INPP5K cause a congenital muscular dystrophy syndrome with short stature, cataracts, and intellectual disability.[ncbi.nlm.nih.gov]

  • Malnutrition

    Some of the symptoms of severe malnutrition include short stature, low energy levels, and swollen legs and stomach (edema/ascites).[chop.edu] Carnitine nutritional deficiency Decreased nutritional requirement Deficiency of macronutrients Deficiency of micronutrients Dietary potassium - low Dietary sodium - low Dilated cardiomyopathy[icd9data.com] Face appears round with swollen abdomen and legs. Skin is dry and dark with splits or stretch marks like streaks where stretched.[news-medical.net]

  • Alstrom Syndrome

    We report a patient with Alstrom syndrome who had hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis and short stature with normal body weight, all of[ncbi.nlm.nih.gov] Parental screening echocardiograms revealed no evidence of clinically silent dilated cardiomyopathy.[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]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Growth deficiency continues through childhood and results in disproportionate short stature.[rarediseases.org] , myofibrillar MYPN Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) NEXN Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy[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]

  • Pseudopseudohypoparathyroidism

    She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] Hypofunction Diabetes mellitus types: ( type 1 , type 2 , MODY 1 2 3 4 5 6 ) · complications ( coma , angiopathy , ketoacidosis , nephropathy , neuropathy , retinopathy , cardiomyopathy[dictionnaire.sensagent.leparisien.fr] stature.[ncbi.nlm.nih.gov]

  • Pseudohypoparathyroidism

    The patient had short stature, brachydactyly, and subcutaneous heterotopic ossifications.[ncbi.nlm.nih.gov] The authors present the case of a 53-year-old man with ischemic and alcoholic dilated cardiomyopathy and severely reduced ejection fraction, with a cardiac resynchronization[elsevier.pt] The condition causes short stature, round face, obesity, developmental delay, and short hand bones.[nlm.nih.gov]

Similar symptoms