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5,575 Possible Causes for Early-Onset Coronary Artery Stenosis, Failure to Thrive, Hearing Impairment

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Hearing impairment. Mental retardation. Inguinal hernias. Joint stiffness and skeletal deformities Coronary heart disease. Hepatosplenomegaly.[medigoo.com] […] multiorgan deterioration that includes hepatosplenomegaly, dysostosis multiplex, short stature, coarse facial features, corneal clouding, joint contractures, umbilical hernias, failure[surgicalneurologyint.com]

  • Mucopolysaccharidosis 1 H-S

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] impairment, heart disease, and a shortened lifespan.[verywellhealth.com]

  • Menkes Disease

    […] vision Normal hearing The hair of individuals with Menkes syndrome deserves special discussion, particularly since this condition is sometimes also called kinky hair syndrome[encyclopedia.com] Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early childhood.[ncbi.nlm.nih.gov] Patients with MD are characterized by progressive hypotonia, seizures, failure to thrive, and death in early childhood.[ncbi.nlm.nih.gov]

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

    Affected individuals may develop high frequency sensorineural hearing loss, in which transmission of sensory inputs from the auditory nerves to the brain is impaired.[rarediseases.org] In type A NPD less than 5% or sphingomyelinase activity is observed and along with hepatosplenomegaly, patients display a failure to thrive, feeding problems, interstitial[symptoma.com] thrive.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Neonatal Adrenoleukodystrophy

    Hearing aids are provided to those with hearing impairment, and cochlear implants considered when hearing loss is profound.[orpha.net] Abnormal clinical features in neonatal adrenoleukodystrophy are generally present at birth, and include muscle hypotonia, severe psychomotor retardation, and failure to thrive[ncbi.nlm.nih.gov] […] to thrive and severely delayed psychomotor development.[orpha.net]

    Missing: Early-Onset Coronary Artery Stenosis
  • Marshall-Smith Syndrome

    impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Generalized hirsutism Excessive hairiness over body 0002230 Hypertelorism Wide-set eyes Widely spaced[rarediseases.info.nih.gov] It is hoped that the etiology of the syndrome will be discovered as more cases are recognized and reported by pediatricians caring for infants with failure to thrive, advanced[ncbi.nlm.nih.gov] Marshall A syndrome of motor and mental retardation, accelerated skeletal maturation, failure to thrive, and abnormal facies.[whonamedit.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Propionic Acidemia

    It can be assumed that acute and chronic effects of accumulating metabolites on the KvLQT1/KCNE1 channel protein may similarly cause the hearing impairment of patients with[ncbi.nlm.nih.gov] A 15-month-old girl with propionic acidemia presented a failure to thrive and muscular hypotonia, who had been treated with diets low in leucine, valine, isoleucine, threonine[ncbi.nlm.nih.gov] In the chronic progressive form, the disease presents as failure to thrive, chronic vomiting, psychomotor delay, hypotonia, seizures and movement disorders.[orpha.net]

    Missing: Early-Onset Coronary Artery Stenosis
  • Fanconi Renotubular Syndrome

    Although other clinical variations such as liver dysfunction have been associated with HNF4A mutations, hearing impairment has not previously been associated.[ncbi.nlm.nih.gov] Main clinical findings are polyuria, failure to thrive, rickets/osteomalacia, metabolic acidosis, bone deformities, and, occasionally, nephrocalcinosis.[ncbi.nlm.nih.gov] Case presentation We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment[jmedicalcasereports.biomedcentral.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Emanuel Syndrome

    impairment.[ncbi.nlm.nih.gov] The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.[checkorphan.org] Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Wolf-Hirschhorn Syndrome

    More than 25 genes for nonsyndromic hereditary hearing impairment have been mapped.[ncbi.nlm.nih.gov] Accordingly, prenatal-onset growth retardation and failure to thrive have been found to result from haploinsufficiency for a 4p gene located between 0.4 and 1.3 Mb, whereas[ncbi.nlm.nih.gov] Clinical manifestations of WHS include intrauterine growth restriction, failure to thrive in the neonatal period that is present simultaneously with hypotonia, typical "Greek[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis

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