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792 Possible Causes for Cardiomyopathy, Hypertelorism, Rarely Malignant

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[ncbi.nlm.nih.gov] Here we report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy with lethal outcome, in whom we identified a novel mutation[ncbi.nlm.nih.gov] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice.[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]

  • Diabetes Mellitus

    Abstract Werner syndrome is a rare genetic disease characterized by progeria, diabetes mellitus, cataracts and various types of malignancy.[ncbi.nlm.nih.gov] […] was on hemodialysis due to the stage 5 chronic kidney failure and had various comorbid conditions: arterial hypertension, history of acute myocardial infarction, dilative cardiomyopathy[ncbi.nlm.nih.gov] […] presentation, at the gestational age of 35 weeks, weighing 1500 g (intrauterine growth retardation, p At birth: Apgar Score 7, features of down syndrome - epicanthic eye-fold, hypertelorism[ncbi.nlm.nih.gov]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    […] in human malignancies: implications for Noonan syndrome patients.[karger.com] […] stand still Autosomal dominant hypohidrotic ectodermal dysplasia Brugada syndrome Common variable immunodeficiency Familial atrial fibrillation Familial isolated dilated cardiomyopathy[csbg.cnb.csic.es] The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects.[uniprot.org]

  • Heart Failure

    Abstract BACKGROUND Cardiac involvement by a malignant tumor is rare. However, this is a case of right heart failure due to cardiac metastasis from a yolk sac tumor.[ncbi.nlm.nih.gov] Predisposing factors for CQ/HCQ-induced cardiomyopathy have been proposed.[ncbi.nlm.nih.gov] On the basis of the history of PS and characteristic physical features including short stature, webbed neck, and hypertelorism, she was clinically diagnosed with NS.[ncbi.nlm.nih.gov]

  • Neurofibromatosis Type 1

    Plexiform neurofibromas- tumors along nerve bundle tracts, can be large and usually appear at birth or early in childhood (occur in 25%) Malignant peripheral nerve sheath[en.wikibooks.org] A boy with café-au-lait spots manifested restrictive cardiomyopathy.[ncbi.nlm.nih.gov] NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.[genome.ucsc.edu]

  • LEOPARD Syndrome

    Leukemia is observed in 1-3% of patients with NS, with rare occurrences of solid tumors. It also appears to predispose to non-malignant tumors.[ncbi.nlm.nih.gov] Although it is not cited, hypertrophic cardiomyopathy is often associated with the disease.[ncbi.nlm.nih.gov] Abstract Lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retarded growth, and deafness syndrome (multiple[ncbi.nlm.nih.gov]

  • Hypertrichotic Osteochondrodysplasia

    Structural variations in other ABC transporters have been described rather rarely in EC.[mdpi.com] Diseases related with Cardiomyopathy and Short phalanx of finger In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Short[mendelian.co] Hypertrichotic osteochondrodysplasia (Cantu syndrome), AD, sporadic, Unidentified, Coarse dysmorphic facies ... prominent forehead, broad nasal bridge, hypertelorism), hypertrichosis[archive.fo]

  • Gorlin Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[ncbi.nlm.nih.gov] D – deafness, sensorineural Other features can be abnormal pigmentation of the iris and retina, subaortic stenosis and hypertrophic cardiomyopathy.[whonamedit.com] Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding[ncbi.nlm.nih.gov]

  • Alpers Syndrome

    Sweet syndrome. [3] In rare cases, crops of lesions recur and can persist indefinitely. [2] Cases associated with malignancy can present with bullous or ulcerative lesions[emedicine.medscape.com] ECG and echocardiogram to rule out cardiomyopathy should be considered.[symptoma.com] BEARE-STEVENSON SYNDROME Proptosis, hypertelorism, downslanting palpebral fissures AD FGFR2 #123790 BECKWITH-WIEDEMANN SYNDROME Deep-set eyes, hypertelorism, epicanthal folds[eyewiki.aao.org]

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