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2,457 Possible Causes for Nystagmus Decreases on Convergence, Present in Infancy in all Affected Individuals, Skeletal Dysplasia

  • Malnutrition

    Nystagmus may decrease when the eyes converge to read.[eyeassociates.com] Low vision specialists can add prism to induce convergence artificially and thus reduce the nystagmus in some patients.[eyeassociates.com] Nystagmus acquired later in life may cause vertigo or dizziness like effects from the sensation of motion in the vision.[eyeassociates.com]

    Missing: Present in Infancy in all Affected Individuals
  • Coxa Vara

    In most (not all) affected individuals, cortical and cerebellar malformations are present and are associated with severe developmental delays, seizures, and neurologic regression[ncbi.nlm.nih.gov] Abstract Coxa vara can be a progressive deformity in children with skeletal dysplasia.[ncbi.nlm.nih.gov] Ten of the children had unilateral hip disease and were otherwise normal while four had bilateral hip disease due to generalised skeletal dysplasias.[ncbi.nlm.nih.gov]

    Missing: Nystagmus Decreases on Convergence
  • Hip Dysplasia Type Beukes

    In some cases, symptom manifestation may occur in an individuals 30s Both males and females may be affected Worldwide, individuals of all racial and ethnic groups may be affected[dovemed.com] Skeletal dysplasias are more commonly known as types of dwarfism, but not all skeletal dysplasias cause a person to be short in height.[malacards.org] American Journal of Kidney Diseases 46(1): 52-57, 2005 Dysplasia spondylo epiphysaria congenita an autosomal dominant hereditary skeletal dysplasia.[eurekamag.com]

    Missing: Nystagmus Decreases on Convergence
  • LIG4 Syndrome

    Patients present in infancy with recurrent, persistent infections by opportunistic organisms.[genecards.org] […] and immune defect (OLEDAID) KAT6B Genitopatellar syndrome, Ohdo syndrome, SBBYS variant LBR Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal[genda.com.ar] CENPJ, CEP152, PCNT, ATR, RBBP8, CEP63 Specificity 34 % Genes 100 % Skeletal Dysplasias Core Panel. By Blueprint Genetics in Finland.[mendelian.co]

    Missing: Nystagmus Decreases on Convergence
  • Oculodentodigital Dysplasia

    dysplasia, enamel dysplasia, and hypotrichosis.[ncbi.nlm.nih.gov] Less frequent ocular findings are nystagmus, palpebral fissure hypoplasia, epicanthal folds and convergent strabismus.[orpha.net] dysplasia, (5) enamel dysplasia, and (6) trichosis.[ncbi.nlm.nih.gov]

    Missing: Present in Infancy in all Affected Individuals
  • Craniodiaphyseal Dysplasia

    The advances referred to in this chapter, particularly molecular genetics and database access, have transformed the diagnosis of skeletal dysplasias.[books.google.de] Exophthalmos, optic atrophy, reduced visual fields, convergent strabismus, nystagmus, chronic headache, and decreased sensory function of the trigeminal nerve have been described[slideheaven.com] European skeletal dysplasia network (ESDN). 2003-2010. www.esdn.org (accessed April 16, 2015). International skeletal dysplasia society (ISDS). 2004-2015. www.isds.ch.[karger.com]

    Missing: Present in Infancy in all Affected Individuals
  • Chondrodysplasia Punctata

    Additionally, almost all affected individuals present with cataract. The cataracts are apparent at birth (congenital) or develop in early infancy.[jocr.co.in] Chondrodysplasia punctata (CDP) is a rare skeletal dysplasia characterized by stippled epiphyses during infancy.[ncbi.nlm.nih.gov] X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving facial, skin, and skeletal dysplasia as a result of a mutation in emopamil binding protein[ncbi.nlm.nih.gov]

    Missing: Nystagmus Decreases on Convergence
  • Van Buchem Disease

    Abstract Van Buchem disease is an autosomal recessive skeletal dysplasia characterised by generalised bone overgrowth, predominantly in the skull and mandible.[ncbi.nlm.nih.gov] Exophthalmos, optic atrophy, reduced visual fields, convergent strabismus, nystagmus, chronic headache, and decreased sensory function of the trigeminal nerve have been described[slideheaven.com] The authors also have had available data from the University of Cape Town Skeletal Dysplasia Registry.[books.google.de]

    Missing: Present in Infancy in all Affected Individuals
  • Hereditary Hyperphosphatasia

    The authors also have had available data from the University of Cape Town Skeletal Dysplasia Registry.[books.google.com] Exophthalmos, optic atrophy, reduced visual fields, convergent strabismus, nystagmus, chronic headache, and decreased sensory function of the trigeminal nerve have been described[slideheaven.com] Dysplasias 403 Chapter 26 Familial Hypophosphatemia and Related Disorders 699 Chapter 27 Hereditary Tubular Disorders of Mineral Handling 727 Chapter 28 Hypophosphatasia[books.google.it]

    Missing: Present in Infancy in all Affected Individuals
  • Cystitis

    In most (not all) affected individuals, cortical and cerebellar malformations are present and are associated with severe developmental delays, seizures, and neurologic regression[ncbi.nlm.nih.gov] Classification Developmental  Isolated (may be bilateral)  Associated with a skeletal dysplasia o Cleidocranial dysostosis o Metaphyseal dysostosis o Other skeletal dysplasias[slideshare.net] Also included in this category are secondary varus changes due to generalized skeletal conditions or dysplasias such as Morquio disease (mucopolysaccharidosis type IV), cleidocranial[emedicine.medscape.com]

    Missing: Nystagmus Decreases on Convergence

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