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577 Possible Causes for Mental Retardation, Muscle Hypotonia, Round Face

  • Congenital Muscular Dystrophy

    Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[ncbi.nlm.nih.gov] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] Hypotonia means decreased muscle tone. Hypotonia is often a sign of a worrisome problem. The condition can affect children or adults.[nlm.nih.gov]

  • Prader-Willi Syndrome

    Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[icd9data.com] Because of weak muscles (hypotonia), the infant is not able to drink from a bottle and may need special feeding techniques or tube feedings until his/her muscles become stronger[rarediseases.about.com] (hypotonia) learning difficulties lack of sexual development behavioural problems, such as temper tantrums or stubbornness Read more about symptoms of Prader-Willi syndrome[nhs.uk]

  • Neuhauser Syndrome

    Megalocornea and mental retardation syndrome. Am J Med Genet 1988;29:221-223. [ Links ] 4. Gronbech-Jensen M. Megalocornea and mental retardation syndrome: a new case.[scielo.br] Abnormally diminished muscle tone (hypotonia) and craniofacial abnormalities may be apparent at birth (congenital).[rarediseases.org] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] The mitochondrial myopathy thereby induced allows a better understanding of general muscle hypotonia, one of the leading symptoms of this disorder.[ncbi.nlm.nih.gov] A 13-year-old girl with severe mental retardation, tapetoretinal degeneration, an extinguished electroretinogram and sensoneurinal hearing loss is described.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 49

    This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com] […] tone (hypotonia), and muscle wasting.[natera.com] Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Dominant 29 Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skinanomalies Mental Retardation[familydiagnosis.com]

  • Pseudopseudohypoparathyroidism

    She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] – Seizure, tetany,muscle weakness, paraesthesia, numbness 15 Biochemical findings of rickets Vitamin D deficiency rickets – Low- normal serum calcium level – Increased secretion[slideplayer.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]

  • Duchenne Muscular Dystrophy

    Some patients also have mild mental retardation. As DMD progresses, a wheelchair may be needed.[medterms.com] , absent deep tendon reflexes and fasciculations 3 Mildly elevated creatine kinase levels, severe limb contractures present at an early age 4 Acute onset of weakness, hypotonia[orthobullets.com] I couldn’t face another procession of sad phone calls. But, of course, I had to. ‘Nick called his parents, who lived close by, and his dad came round at once.[dailymail.co.uk]

  • Chromosome 18p Deletion Syndrome

    […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org] (low muscle tone)/Delayed gross motor development Hypotonia is more pronounced at birth but usually improves with age.[9pminus.org] Knight Karger Medical and Scientific Publishers, 15.02.2010 - 178 Seiten This remarkable publication focuses on the importance of genetics in mental retardation, investigating[books.google.de]

  • Down Syndrome

    Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] From Wikidata Jump to navigation Jump to search chromosomal disease characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused[wikidata.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]

  • Propionic Acidemia

    It’s not detailed enough to round with 1. Open or select the patient(s) you want 2.[slidex.tips] Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness.[ncbi.nlm.nih.gov] Early OLT may limit the development of mental retardation and/or cardiomyopathy.[ncbi.nlm.nih.gov]

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