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Results 71 - 80 of 129 for Bone development disease
  1. Microcephalic osteodysplastic primordial dwarfism type II 
    ... inches. Other skeletal abnormalities in MOPDII include abnormal development of the hip joints (hip dysplasia), thinning of the bones in the arms and legs, an abnormal side- ...
    https://medlineplus.gov/...teodysplastic-primordial-dwarfism-type-ii - Genetics
  2. X-linked lymphoproliferative disease 
    ... the proapoptotic SAP function in X-linked lymphoproliferative disease aggravates Epstein-Barr virus (EBV) induced mononucleosis and promotes lymphoma development. Immunol Lett. 2010 May 4;130(1-2): ...
    https://medlineplus.gov/.../x-linked-lymphoproliferative-disease - Genetics
  3. Hereditary multiple osteochondromas 
    ... Porter JR, Monaco AP, Simpson AH. Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. J Bone Joint Surg Br. 2004 Sep;86(7):1041- ...
    https://medlineplus.gov/.../hereditary-multiple-osteochondromas - Genetics
  4. Familial exudative vitreoretinopathy 
    ... inner ear. The LRP5 protein also helps regulate bone formation.Variants in the FZD4, LRP5, or NDP gene disrupt chemical signaling during early development, which interferes with the formation of blood vessels ...
    https://medlineplus.gov/.../familial-exudative-vitreoretinopathy - Genetics
  5. Cutis laxa 
    ... with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone abnormalities.The X-linked form of cutis laxa ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  6. Cherubism 
    ... the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild ...
    https://medlineplus.gov/genetics/condition/cherubism - Genetics
  7. Lowe syndrome 
    ... About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by increased pressure within the eyes.Many individuals with Lowe syndrome have delayed development, and intellectual ability ranges from normal to severely ...
    https://medlineplus.gov/genetics/condition/lowe-syndrome - Genetics
  8. Systemic mastocytosis 
    ... systemic mastocytosis, often resulting in a more aggressive disease and shorter survival. These genes primarily play roles in controlling the proliferation of cells or regulating the activity of other genes that are important in development. ASXL1 DNMT3A KIT RUNX1 TET2 Additional Information from ...
    https://medlineplus.gov/genetics/condition/systemic-mastocytosis - Genetics
  9. Dentinogenesis imperfecta 
    ... two proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle ...
    https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta - Genetics
  10. Maffucci syndrome 
    ... in early adulthood. As a result of the bone deformities associated with ... enchondromas (Ollier disease) by the presence of red or purplish growths ...
    https://medlineplus.gov/genetics/condition/maffucci-syndrome - Genetics
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