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5,163 Possible Causes for Dysmorphic Face, Early-Onset Coronary Artery Stenosis, 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] retardation.[medical-dictionary.thefreedictionary.com] Some of these features may be absent, particularly clouding of the cornea and mental retardation.[jamanetwork.com]

  • Klinefelter Syndrome

    This is the first description of KS, mosaicism (46,XY/47,XXY), associated with AN and mental retardation.[ncbi.nlm.nih.gov] Author information 1 Oasi Institute (IRCCS) for Research on Mental Retardation and Brain Aging, Troina, Italy. micezia@tiscali.it, msalemi@oasi.en.it. 2 Section of Endocrinology[ncbi.nlm.nih.gov] Three main clinical signs should suggest the diagnosis in a child: small testes, tall stature, and mental retardation or learning problems.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Patau Syndrome

    Survivors suffer from severe mental retardation and health problems all their lives.[symptoma.com] retardation may complicate survival Please rate topic.[medbullets.com] Overview Patau syndrome or Trisomy 13 is a rare and very severe chromosome disorder leading to mental retardation and physical defects.[checkorphan.org]

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

    CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] In some of the patients, facial dysmorphism was also reported: the forehead was high and prominent with a wide fontanel, the mid-face was flat, and the nose and filtrum short[doi.org] This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardation, white matter changes and subtle structural abnormalities on brain MRI.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis

    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] Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies A syndrome[icd9data.com] retardation.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Pseudopseudohypoparathyroidism

    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]

    Missing: Early-Onset Coronary Artery Stenosis
  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] METHODS AND RESULTS: The GNAS gene of a 5-year-old boy with brachydactily, mental retardation, pseudohypoparathyroidism and congenital hypothyroidism was investigated.[ncbi.nlm.nih.gov] retardation.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Smith Lemli Opitz Syndrome

    Smith-Lemli-Opitz syndrome, a syndrome of multiple malformations and mental retardation that for years was relegated to the atlases of genetic esoterica, was recently found[ncbi.nlm.nih.gov] We present the case of an infant born by cesarean section for fetal suffering (Apgar score 8/1′–8/5′), with multiple malformations (dysmorphic face, polydactyly, syndactyly[endocrine-abstracts.org] It comprises a characteristic combination of facial features, malformations, and mental retardation.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Williams-Beuren Syndrome

    Reiss. (2004) Curiosity and Mental Retardation: Beyond IQ. Mental Retardation 42 :1, 77-81. Online publication date: 14-Jul-2009.[doi.org] It is characterized by dysmorphic face, cardiovascular disease, idiopathic hypercalcemia, mental retardation, and an uneven profile of cognitive-linguistic abilities and deficits[ncbi.nlm.nih.gov] She had hypotonia and large tongue, "coarse" face, and umbilical hernia in presence of complex congenital cardiovascular malformations.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Congenital Hypothyroidism

    Congenital hypothyroidism is the most common treatable cause of mental retardation.[ncbi.nlm.nih.gov] Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects[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

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