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Results 1 - 10 of 10 for Broken nose
  1. VEXAS syndrome 
    ... arthritis), skin (dermatitis), cartilage in the ear and nose (chondritis), or blood vessels (vasculitis). Inflammation can also ... that targets damaged or unneeded proteins to be broken down (degraded) within cells. Protein degradation helps maintain ...
    https://medlineplus.gov/genetics/condition/vexas-syndrome - Genetics
  2. Kaufman oculocerebrofacial syndrome 
    ... in front of the ear (preauricular tags). The nose has a narrow bridge, a wide base, and ... also have flat cheeks; a space between the nose and upper lip (philtrum) that is unusually long ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  3. Craniofrontonasal syndrome 
    ... typically affected: the skull (cranio-), face (fronto-), and nose (nasal).In people with craniofrontonasal syndrome, the skull ... a slit (cleft) in the tip of the nose, a wide nasal bridge, an upper lip that ...
    https://medlineplus.gov/.../condition/craniofrontonasal-syndrome - Genetics
  4. BAP1 tumor predisposition syndrome 
    ... article on PubMed Central Mochel MC, Piris A, Nose V, Hoang MP. Loss of BAP1 Expression in ...
    https://medlineplus.gov/.../bap1-tumor-predisposition-syndrome - Genetics
  5. Christianson syndrome 
    ... size (microcephaly); a long, narrow face with prominent nose, jaw, and ears; an open mouth and uncontrolled ... NHE6 protein that is nonfunctional or that is broken down quickly in cells, resulting in the absence ...
    https://medlineplus.gov/genetics/condition/christianson-syndrome - Genetics
  6. Cowden syndrome 
    ... such as the lining of the mouth and nose), but they can also occur in the intestine ... the process that targets other proteins to be broken down (degraded) within cells. During this process, the ...
    https://medlineplus.gov/genetics/condition/cowden-syndrome - Genetics
  7. Hajdu-Cheney syndrome 
    ... midface hypoplasia), and a large space between the nose and upper lip (a long philtrum). Some affected ... version of the Notch2 receptor that cannot be broken down normally. As a result, the receptor continues ...
    https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome - Genetics
  8. Xia-Gibbs syndrome 
    ... downslanting palpebral fissures), a flat bridge of the nose, or a thin upper lip. Other, less-common ... are unclear. The shortened proteins may be quickly broken down or be unable to function. Or, the ...
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
  9. Prolidase deficiency 
    ... a high forehead, a flat bridge of the nose, and a very small lower jaw and chin ( ... that accumulation of dipeptides that have not been broken down may lead to cell death. When cells ...
    https://medlineplus.gov/genetics/condition/prolidase-deficiency - Genetics
  10. CHOPS syndrome 
    ... set, bulging eyes with long eyelashes; a short nose; and down-turned corners of the mouth.Most ... result in an AFF4 protein that is not broken down when it is no longer needed, so ...
    https://medlineplus.gov/genetics/condition/chops-syndrome - Genetics