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5,777 Possible Causes for Early-Onset Coronary Artery Stenosis, Hearing Impairment, Hepatomegaly

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Scheie's syndrome Scheie patients tend to be diagnosed as teenagers with hepatomegaly, joint contractures, cardiac valve abnormalities and corneal clouding.[patient.info] Hearing impairment. Mental retardation. Inguinal hernias. Joint stiffness and skeletal deformities Coronary heart disease. Hepatosplenomegaly.[medigoo.com]

  • Toxoplasmosis

    […] common encephalomyelitis, retinochoroiditis, intracranial calcification and hydrocephalus to the non-specific symptoms of acute infection such as convulsion, splenomegaly, hepatomegaly[fao.org] There may be ventriculomegaly, CNS calcifications, placental changes, hepatomegaly, splenomegaly, ascites and pericardial or pleural effusion [ 3 ] .[patient.info] There may be ventriculomegaly, CNS calcifications, placental changes, hepatomegaly, splenomegaly, ascites and pericardial or pleural effusion [ 3 ].[patient.info]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis

    The patient was a 2-yr-old girl presenting with skeletal deformity, hepatomegaly, and delayed motor development.[ncbi.nlm.nih.gov] During 36 months of ERT, symptoms typical of MPS VI including short stature, progressive dysmorphic facial features, hepatosplenomegaly, hearing impairment, corneal clouding[ncbi.nlm.nih.gov] […] neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with snoring, wide-spaced teeth, short thick neck, hepatomegaly[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • TORCH Syndrome

    On the contrary, findings resembling congenital infectious diseases including neonatal icterus, hyperbilirubinemia, thrombocytopenia, and hepatomegaly, affect less than half[ncbi.nlm.nih.gov] Causes of Hearing Impairment January 24, 2017 The Auditory System and Voice Production January 27, 2017 TORCH syndrome is a cluster of symptoms.[listeningears.in] Cytomegalic inclusion disease can include hepatomegaly, splenomegaly, paraventricular calcification, and intrauterine growth retardation.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 2

    The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com] Protuberant abdomen Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly[symptoma.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 4A

    […] may also experience involvement of other organ systems such as respiratory problems, valvular heart disease, hearing impairment, corneal clouding, dental abnormalities, hepatomegaly[rarediseases.info.nih.gov] In general, MPS-IVA patients show normal intelligence, but visual impairment and hearing loss are regularly reported.[symptoma.com] […] people may also experience involvement of other organ systems such as respiratory problems,valvular heart disease, hearing impairment, corneal clouding, dental abnormalities, hepatomegaly[checkorphan.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Cytomegalovirus Infection

    Radiologic examinations were carried out, and the computed tomography scan revealed a hepatomegaly and a chest X-ray showed evidence of a unilateral pleural effusion.[ncbi.nlm.nih.gov] Neonatal cytomegalovirus infection remains a common cause of congenital infection worldwide with effects ranging from hearing impairment to significant neurological morbidity[ncbi.nlm.nih.gov] Unfortunately, about 20 percent later develop severe hearing impairments and mental retardation .[encyclopedia.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Glycogen Storage Disease Type 2

    Patients have also organomegaly (hepatomegaly, splenomegaly, macroglossia) and feeding difficulties.[ncbi.nlm.nih.gov] impairment Osteoporosis/osteopenia Treatment Enzyme replacement therapy (ERT) Until recently in the UK treatment for Pompe disease was limited to supportive therapy.[cuh.nhs.uk] BAER and VER testing demonstrate impairment of hearing and vision. NCS velocities are slowed, reflecting peripheral demyelination and neuropathy.[dx.doi.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 4

    Other possible features include pulmonary compromise, valvular heart disease, hearing loss, hepatomegaly, fine corneal clouding, and widely spaced teeth with abnormally thin[genedx.com] impairment Unlike some other types of MPS, Morquio syndrome doesn't appear to cause intellectual disabilities.[everydayhealth.com] Extra-skeletal manifestations include respiratory problems, hepatomegaly, valvulopathies, hearing loss and corneal clouding. Intelligence is normal.[orpha.net]

    Missing: Early-Onset Coronary Artery Stenosis
  • Niemann-Pick Disease Type C

    His brother presented at 22 weeks'gestation an isolated hepatomegaly with cholestasis at birth showing favourable evolution.[ncbi.nlm.nih.gov] CONCLUSION: There is no curative treatment for this devastating and fatal disorder and hearing impairment, balance and swallowing disorders can be seen especially late onset[ncbi.nlm.nih.gov] She presented hepatomegalies and splenomegalies in an abdominal CT.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis

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