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646 Possible Causes for Hypertelorism, Learning Disabilities, Rarely Malignant

  • Neurofibromatosis Type 1

    Plexiform neurofibromas- tumors along nerve bundle tracts, can be large and usually appear at birth or early in childhood (occur in 25%) Malignant peripheral nerve sheath[] It is characterized by multiple caféau- lait spots of the skin, benign cutaneous neurofibromas, skeletal dysplasia and learning disability.[] Learning disabilities in NF1 A learning disability can be thought of as a short circuit or problem (dysfunction) in one or several of channels in the brain.[]

  • Turner Syndrome

    Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare.[] […] encountered findings were growth delay (98.8%), shortening of the 4 th and 5 th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism[] For example, Turner syndrome is a proposed etiology of the nonverbal learning disability - because of reported relative strengths in verbal skills, and relatively weaker nonverbal[]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[] In the United Kingdom, the psychiatry of learning disability is a specialty in its own right, but people with learning disabilities outside the UK may be under the care of[] As mentioned in related reviews, research evidence in learning disability is limited ( Prasher 2004a ).[]

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[] disability.[]

  • Sotos Syndrome

    Sotos syndrome is a rare congenital disorder that is associated with various malignancies, including acute lymphoblastic leukemia and lymphomas.[] […] overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism[] Data from a survey of 27 children (17 males and 10 females; mean age 10 years 7 months; range 6 to 15 years) with mild and moderate learning disabilities were obtained concerning[]

  • Legius Syndrome

    , as well as other rare conditions, including kidney and lung cancer ( 8 ).[] Individuals with Legius syndrome typically have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as hypertelorism[] disability.[]

  • Klinefelter Syndrome

    The presented case emphasizes the importance of awareness and expedient appropriate management to achieve oncologic control of a rare tumor with low malignant potential discovered[] […] may be small, and gynecomastia is frequently reported 49,XXXXY (4 X chromosomes) This is the most severe variant of Klinefelter syndrome Abnormal facial features include hypertelorism[] Learning disability; delayed speech development; behavioural problems; psychosocial disturbances.[]

  • Aarskog-Scott Syndrome

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[] Additionally, about ten per cent of people with Aarskog syndrome have mild learning disability or behavioural difficulties, and heart problems have been noted in some affected[]

  • 17q11 Microdeletion Syndrome

    , developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.[] NF1 gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat facial profile, dolicocephaly, hypertelorism[] Abstract Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried[]

  • Mucopolysaccharidosis

    Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice.[] To illustrate this, we describe two siblings who presented with behavioural issues and mild learning disabilities in childhood, and were consequently given multiple psychiatric[] However, some children can have delays in reaching developmental milestones or learning disabilities because of certain symptoms, particularly spinal problems, related to[]

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