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5,394 Possible Causes for Early-Onset Coronary Artery Stenosis, Macroglossia, Mental Retardation

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] […] ankylosis of temporomandibular joint, infiltration of pharyngeal tissues and tracheal cartilages, intraluminal narrowing of the conductive airways and excessive secretions, macroglossia[joacp.org] retardation.[medical-dictionary.thefreedictionary.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] […] hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[icdlist.com] Symptoms include mental retardation, dwarfism, dysostosis multiplex, corneal clouding, deafness, hernia, stiff joints (claw hand), and valvular heart disease.[medicine.academic.ru]

  • Duchenne Muscular Dystrophy

    This article describes the complex orthodontic treatment of a 22-year-old patient with Duchenne muscular dystrophy and macroglossia.[ncbi.nlm.nih.gov] Some patients also have mild mental retardation. As DMD progresses, a wheelchair may be needed.[medterms.com] There is pseudohypertrophy of tongue (macroglossia in 30% cases) and calf muscles (60% cases).[symptoma.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis

    However, access to secure the airway and for conventional surgery can be challenging, due to limited neck extension, macroglossia and reduced mouth opening.[ncbi.nlm.nih.gov] The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[ncbi.nlm.nih.gov] […] hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[ghr.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 2

    Common signs and symptoms include a large head, full lips, large rounded cheeks, a broad nose, hoarse voice and an enlarged tongue (macroglossia).[symptoma.com] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch] Physical findings: • Coarse facial features; • Narrowing of the cervical spinal canal (spinal stenosis); • Enlarged tongue (macroglossia) and vocal cords; • Enlarged liver[secure.ssa.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Congenital Muscular Dystrophy

    Additional symptoms may occur including overgrowth (hypertrophy) of the muscles of the legs, an abnormally enlarged tongue (macroglossia), weakness and wasting (atrophy) of[rarediseases.org] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] Additional features include moderate hepatomegaly and macroglossia.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Congenital Hypothyroidism

    Coarse facies, macroglossia, constipation, and short trunk may become evident either during or beyond the neonatal period.[currentpediatrics.com] Congenital hypothyroidism is the most common treatable cause of mental retardation.[ncbi.nlm.nih.gov] When diagnosed and treated at an early stage, its most important complication, mental retardation, is preventable.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Down Syndrome

    Dental malocclusion and macroglossia are associated. Technical modifications to increase macroglossia surgery safety and efficacy have been described.[doi.org] Abstract Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language[oadoi.org] In the postnatal period, characteristic phenotypical features point to the diagnosis: depressed nasal bridge epicanthic folds abundant neck skin macroglossia simian crease[radiopaedia.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1

    Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition.[symptoma.com] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] […] hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[ghr.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Sporadic Goitrous Cretinism

    Cretinism  Fetal or infantile hypothyroidism  Endemic and sporadic  Sporadic –agenesis ,dyshormonogenesis  Hoarse cry, macroglossia, umbilical hernia  Immediate diagnosis[slideshare.net] Early treatment with thyroid hormone generally promotes normal physical growth but may not prevent mental retardation.[medical-dictionary.thefreedictionary.com] Macroglossia may be due to tumor; eg, lymphangioma. The dry skin of ichthyosis may be misleading.[generalhealthtopics.com]

    Missing: Early-Onset Coronary Artery Stenosis

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