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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[en.wikibooks.org] It is characterized by multiple caféau- lait spots of the skin, benign cutaneous neurofibromas, skeletal dysplasia and learning disability.[ncbi.nlm.nih.gov] 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.[nfcenter.wustl.edu]

  • Turner Syndrome

    Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare.[ncbi.nlm.nih.gov] […] 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[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[ncbi.nlm.nih.gov] 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[doi.org] As mentioned in related reviews, research evidence in learning disability is limited ( Prasher 2004a ).[doi.org]

  • Noonan Syndrome

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

  • Sotos Syndrome

    Sotos syndrome is a rare congenital disorder that is associated with various malignancies, including acute lymphoblastic leukemia and lymphomas.[ncbi.nlm.nih.gov] […] overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism[ncbi.nlm.nih.gov] 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[journals.cambridge.org]

  • Legius Syndrome

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

  • 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[ncbi.nlm.nih.gov] […] 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[en.wikibooks.org] Learning disability; delayed speech development; behavioural problems; psychosocial disturbances.[patient.info]

  • 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[checkrare.com] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org] 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[cafamily.org.uk]

  • 17q11 Microdeletion Syndrome

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

  • 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.[ncbi.nlm.nih.gov] To illustrate this, we describe two siblings who presented with behavioural issues and mild learning disabilities in childhood, and were consequently given multiple psychiatric[ncbi.nlm.nih.gov] However, some children can have delays in reaching developmental milestones or learning disabilities because of certain symptoms, particularly spinal problems, related to[thinkgenetic.com]

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