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1,028 Possible Causes for Genu Valgum, Nystagmus Decreases on Convergence, Present in Infancy in all Affected Individuals

  • Marfan Syndrome

    Kyphosis/scoliosis is present in about half of all affected individuals. It begins as early as infancy, is progressive, and causes the greatest morbidity in CCA.[ncbi.nlm.nih.gov] Kyphosis/scoliosis, present in approximately half of all affected individuals, begins as early as infancy and is progressive.[ncbi.nlm.nih.gov] The majority of affected individuals have muscular hypoplasia. Contractures usually improve with time.[ncbi.nlm.nih.gov]

    Missing: Nystagmus Decreases on Convergence
  • 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] […] abnormal Hueter-Volkmann forces across the physis causing progressive genu valgum.[ncbi.nlm.nih.gov] Genu Varum & Genu Valgum Knock Knees Bow Legs 22.[slideshare.net]

    Missing: Nystagmus Decreases on Convergence
  • Vitamin D Deficiency

    However, severe vitamin D deficiency may manifest as rickets with the below clinical features: Bony Signs - Swelling of wrists and ankles - Leg deformities (genu varum or[starship.org.nz] valgum) - Rachitic rosary in the chest wall ( enlarged costochondral joints) - Delayed tooth eruption (no incisors by aged 10 months, no molars by age 18 months) - Craniotabes[starship.org.nz]

    Missing: Nystagmus Decreases on Convergence Present in Infancy in all Affected Individuals
  • Homocystinuria

    Affected individuals may be impacted in all four areas or just in one. Clinical presentations can occur from infancy through adulthood.[invitae.com] Skeletal changes include genu valgum and pes cavus, followed by dolichostenomelia, pectus excavatum or carinatum and kyphosis, or scoliosis and osteoporosis.[orpha.net] Although patients with homocystinuria may present to the orthopaedic surgeon with osteoporosis, severe genu valgum or scoliosis, the disease is an uncommon cause of these[online.boneandjoint.org.uk]

    Missing: Nystagmus Decreases on Convergence
  • Osteoarthritis

    We here report a case of a 50-year-old male with ankle osteoarthritis and lower limb deformity, for which simultaneous deformity correction and arthrodiastasis were performed. The patient initially experienced an open fracture on the left tibia at 19 years, but it was malunited. The Japanese Society for Surgery[…][ncbi.nlm.nih.gov]

    Missing: Nystagmus Decreases on Convergence Present in Infancy in all Affected Individuals
  • Tricho-Retino-Dento-Digital Syndrome

    Taurodontism was present in all affected individuals, but was variably expressed. Unique kinky/curly hair at birth was reported in 85% of affected individuals.[omim.org] […] primary TRAPS (TNF-receptor-associated periodic syndrome) Taurodontia absent teeth sparse hair Teebi Naguib Alawadi syndrome Teeth noneruption of with maxillary hypoplasia and genu[mindmappedia.com] T-cell lymphoma Te Tee-Ten Teebi Kaurah syndrome Teebi Naguib Alawadi syndrome Teebi Shaltout syndrome Teebi syndrome Teeth noneruption of with maxillary hypoplasia and genu[wikidoc.org]

    Missing: Nystagmus Decreases on Convergence
  • 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] valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.[ncbi.nlm.nih.gov] They may have other evidence of a generalized connective disorder, including enlarged anterior fontanelle in infancy, congenital dislocation of the hips, inguinal hernias,[ncbi.nlm.nih.gov]

    Missing: Nystagmus Decreases on Convergence
  • Mucopolysaccharidosis

    valgum, waddling gait, and laxity of joints.[ncbi.nlm.nih.gov] Abstract A 16-year-old boy with widening of the large joints of the extremities and bilateral genu valgum had been extensively treated with oral vitamin D, with little clinical[ncbi.nlm.nih.gov] valgum, short stature, spinal curvature, odontoid hypoplasia, ligamentous laxity, and atlantoaxial instability MPS IV (mild) – Much slower progression of skeletal dysplasia[emedicine.medscape.com]

    Missing: Nystagmus Decreases on Convergence Present in Infancy in all Affected Individuals
  • Mucopolysaccharidosis 4A

    MPS-IVA commonly manifests in form of kyphosis or gibbus, scoliosis, pectus carinatum, genu valgum, gait disturbances and frequent falls, but the clinical presentation varies[symptoma.com] Skeletal deformities (platyspondyly, kyphosis, scoliosis, pectus carinatum , genu valgum , long bone deformities) become more pronounced as the child grows.[orpha.net] Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia[icd10data.com]

    Missing: Nystagmus Decreases on Convergence Present in Infancy in all Affected Individuals
  • Cooley's Anemia

    In uncomplicated cases, skeletal deformities include genu valgum, frontal bossing, malar bone prominence, depression of the nasal bridge, and maxillae hypertrophy.[symptoma.com] Untreated or poorly transfused patients show growth retardation, pallor, jaundice, poor musculature, genu valgum, leg ulcers, formation of masses due to extramedullary hematopoiesis[orpha.net] Some individuals may develop ‘knock knees’ (genu valgum), a condition in which the legs bend inward so that when a person is standing the knees will touch even if the ankles[rarediseases.org]

    Missing: Nystagmus Decreases on Convergence Present in Infancy in all Affected Individuals

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