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5,419 Possible Causes for Early-Onset Coronary Artery Stenosis, Mental Retardation, Skeletal Dysplasia

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] In 1919, while training in paediatrics, Hurler described a syndrome of corneal clouding, dwarfing skeletal dysplasia, spinal malalignment and mental retardation.[whonamedit.com] retardation.[medical-dictionary.thefreedictionary.com]

  • Pfeiffer-Palm-Teller Syndrome

    Elfin facies Paroxysmal bursts of laughter Coronary artery stenosis Abnormality of the bladder Infantile hypercalcemia Renovascular hypertension Overriding aorta Abnormal[mendelian.co] […] brachydactyly Skeletal dysplasia epilepsy short stature Skeletal dysplasia orofacial anomalies Skeletal dysplasia San diego type Skeletal dysplasias Skeleto cardiac syndrome[sosu.us] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Short stature[rarediseases.info.nih.gov]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[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] Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Hydrocephalus

    Hydrocephalus is also a frequent component of skeletal dysplasias and craniosynostosis syndromes in which there is a disparity between brain size and skull size.[neuropathology-web.org] Children with hydrocephalus have developmental defects of motor function, mental retardation, defective vision, and risk for epilepsy.[symptoma.com] Intelligence tests showed the man had an IQ of 75, below the average score of 100 but not considered mentally retarded or disabled, either.[web.archive.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Pseudopseudohypoparathyroidism

    Although synovial manifestations of other rare skeletal dysplasias have been reported, the association of synovial osteochondromatosis and PPH has not been described. 28,29[healio.com] Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like[degruyter.com] Dysplasias NGS panel.[mendelian.co]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 2

    Skeletal abnormalities include a bell-shaped chest, a flattening or curvature of the spine, shortened long bones, and dysplasia of the hips, knees, ankles, and wrists.[en.wikipedia.org] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1

    Skeletal dysplasia is striking and although neonates may appear healthy, radiographic studies may reveal signs of dysostosis multiplex at birth.[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] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Hypomandibular Faciocranial Dysostosis

    Overfriendliness Nystagmus-induced head nodding Early onset of sexual maturation Coronary artery stenosis Functional abnormality of male internal genitalia Dyssynergia Thyroid[mendelian.co] Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27622494 ) Marques F....Li B. 2016 30 Extending the phenotype of BMPER-related skeletal dysplasias[malacards.org] retardation Cardiac septal defect Patent ductus arteriosus Note that Hypomandibular faciocranial dysostosis symptoms usually refers to various symptoms known to a patient[checkorphan.org]

  • Crouzon Syndrome

    Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.com] retardation.[ncbi.nlm.nih.gov] A sporadic case of Crouzon Syndrome without mental retardation is described.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • MELAS Syndrome

    Mordaunt and Ravi Savaririyan, Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to[doi.org] The younger sister had severe involvement of the central nervous system with mental retardation, epilepsia partialis continua, and strokelike episodes.[ncbi.nlm.nih.gov] He presented with standard features of the symptom like: encephalopathy, myopathy, hearing impairment, mental retardation, vision disturbances and history of seizures and[endocrine-abstracts.org]

    Missing: Early-Onset Coronary Artery Stenosis

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