Create issue ticket

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[] retardation.[] Some of these features may be absent, particularly clouding of the cornea and mental retardation.[]

  • Klinefelter Syndrome

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

    Missing: Early-Onset Coronary Artery Stenosis
  • Patau Syndrome

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

    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.[] 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[] This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardation, white matter changes and subtle structural abnormalities on brain MRI.[]

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

    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[]

    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.[] METHODS AND RESULTS: The GNAS gene of a 5-year-old boy with brachydactily, mental retardation, pseudohypoparathyroidism and congenital hypothyroidism was investigated.[] retardation.[]

    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[] 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[] It comprises a characteristic combination of facial features, malformations, and mental retardation.[]

    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.[] It is characterized by dysmorphic face, cardiovascular disease, idiopathic hypercalcemia, mental retardation, and an uneven profile of cognitive-linguistic abilities and deficits[] She had hypotonia and large tongue, "coarse" face, and umbilical hernia in presence of complex congenital cardiovascular malformations.[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Congenital Hypothyroidism

    Congenital hypothyroidism is the most common treatable cause of mental retardation.[] Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects[] When diagnosed and treated at an early stage, its most important complication, mental retardation, is preventable.[]

    Missing: Early-Onset Coronary Artery Stenosis

Similar symptoms