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415 Possible Causes for Mental Retardation, Round Face, Short Stature in Children

  • Pseudohypoparathyroidism

    PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[symptoma.com] The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] We report three cases of primary osteoma cutis in children, two of whom (siblings) were associated with Albright's hereditary osteodystrophy (AHO), manifesting as short stature[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch] The signs and symptoms may include abnormal facial features, cloudy corneas, abnormal development of spine, heart valve defects, and short stature in children A healthcare[dovemed.com]

  • 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] Many children develop a short body trunk and a maximum stature of less than 4 feet.[en.wikipedia.org] Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies A syndrome[icd9data.com]

  • Prader-Willi Syndrome

    (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com] Short stature and short hands and feet are typical of PWS. Growth retardation is common and such children fail to thrive.[symptoma.com] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[fpnotebook.com]

  • Mucopolysaccharidosis 1

    Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] Corneal clouding and cognitive impairment develop, as well as cessation of growth, causing short stature. Joint stiffness and contractures limit mobility.[patient.info] The severe form of MPS I is known as Hurler syndrome or MPS I H : Children affected with the severe form may have mental retardation, short stature, stiff joints, speech and[verywell.com]

  • 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] A 13-year-old girl with severe mental retardation, tapetoretinal degeneration, an extinguished electroretinogram and sensoneurinal hearing loss is described.[ncbi.nlm.nih.gov] , mental retardation and short stature.[ncbi.nlm.nih.gov]

  • Pseudopseudohypoparathyroidism

    She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] 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] The clinical presentation is practically identical for both forms - a short stature with reduced growth of metacarpal and metatarsal bones (manifesting as shorter fingers[symptoma.com]

  • Growth Failure

    , a temporal fat pad, round face, diabetes and other symptoms listed below.[csrf.net] The most severe mental retardation was noted in the group of children with a head circumference of minus 4 standard deviations or below.[pediatrics.aappublications.org] […] lead to short stature.[rileychildrens.org]

  • Cri Du Chat Syndrome

    It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure An infantile syndrome characterized[icd9data.com] retardation. delta-catenin maps to a specific region in 5p15.2 that has been implicated in the mental retardation phenotype.[ncbi.nlm.nih.gov] Babies Characteristic high pitched cry at birth Low birth weight Poor muscle tone Developmental delay Small head Round "moon" face Children Small thin build and short stature[members.tripod.com]

  • 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] 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] Differential diagnosis Differential diagnosis may include a wide number of syndromes with short stature and mild intellectual deficiency.[orpha.net]

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