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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[] In 1919, while training in paediatrics, Hurler described a syndrome of corneal clouding, dwarfing skeletal dysplasia, spinal malalignment and mental retardation.[] retardation.[]

  • Pfeiffer-Palm-Teller Syndrome

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

  • Mucopolysaccharidosis

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

    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.[] Children with hydrocephalus have developmental defects of motor function, mental retardation, defective vision, and risk for epilepsy.[] Intelligence tests showed the man had an IQ of 75, below the average score of 100 but not considered mentally retarded or disabled, either.[]

    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[] Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like[] Dysplasias NGS panel.[]

    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.[] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[]

    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.[] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[]

    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[] Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27622494 ) Marques F....Li B. 2016 30 Extending the phenotype of BMPER-related skeletal dysplasias[] retardation Cardiac septal defect Patent ductus arteriosus Note that Hypomandibular faciocranial dysostosis symptoms usually refers to various symptoms known to a patient[]

  • Crouzon Syndrome

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

    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[] The younger sister had severe involvement of the central nervous system with mental retardation, epilepsia partialis continua, and strokelike episodes.[] He presented with standard features of the symptom like: encephalopathy, myopathy, hearing impairment, mental retardation, vision disturbances and history of seizures and[]

    Missing: Early-Onset Coronary Artery Stenosis

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