Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 177 for Abnormal bone structure
  1. Desmoid tumor 
    A desmoid tumor is an abnormal growth that ... although some people have multiple tumors. The tumors can occur anywhere in the ...
    https://medlineplus.gov/genetics/condition/desmoid-tumor - Genetics
  2. Erdheim-Chester disease 
    ... lower legs and upper arms, due to an abnormal increase in bone density (osteosclerosis). Damage to the pituitary gland (a structure at the base of the brain that produces ...
    https://medlineplus.gov/genetics/condition/erdheim-chester-disease - Genetics
  3. Osteogenesis imperfecta 
    ... structure of type I collagen molecules, resulting in abnormal type I collagen. A defect in the structure of type I collagen weakens connective tissues, particularly bone, resulting in the characteristic features of these more ...
    https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta - Genetics
  4. Liebenberg syndrome 
    Liebenberg syndrome is a condition ... abnormally shaped, which affects mobility of the joints. The stiff elbows function ...
    https://medlineplus.gov/genetics/condition/liebenberg-syndrome - Genetics
  5. VCP gene 
    ... acid) in valosin-containing protein. Changes in the structure of this enzyme impair its ability to break down other proteins as part of the ubiquitin-proteasome system. As a result, excess and abnormal proteins build up in muscle, bone, and brain cells. The proteins form clumps (aggregates) ...
    https://medlineplus.gov/genetics/gene/vcp - Genetics
  6. Cerebro-facio-thoracic dysplasia 
    ... thoracic dysplasia is a rare condition characterized by abnormal ... bones (vertebrae).In addition to intellectual disability, individuals with ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  7. Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 
    ... needed.Variants in the VCP gene alter the structure of valosin-containing protein, impairing its ability to break down other proteins. As a result, excess and abnormal proteins build up in muscle, bone, and brain cells. The proteins form clumps that ...
    https://medlineplus.gov/...paget-disease-and-frontotemporal-dementia - Genetics
  8. COMP gene 
    ... cell involved in protein processing and transport. The abnormal COMP protein is ... of the long bones and short stature.Researchers believe that the lack ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  9. Familial osteochondritis dissecans 
    ... water molecules and gives cartilage its gel-like structure. This feature enables the cartilage to resist compression, protecting bones and joints.The ACAN gene mutation associated with familial osteochondritis dissecans results in an abnormal protein that is unable to attach to the ...
    https://medlineplus.gov/.../familial-osteochondritis-dissecans - Genetics
  10. Cranioectodermal dysplasia 
    ... one of the IFT-A subunits. Shortage or abnormal function of a single component of ... of bone, ectodermal tissues, and other tissues and organs, leading ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next