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Results 71 - 80 of 160 for Short ear
  1. Spondylocarpotarsal synostosis syndrome 
    ... the nose, airways (trachea and bronchi), and external ears. Filamin B appears to ... of an abnormally short filamin B protein that is unstable and breaks ...
    https://medlineplus.gov/.../spondylocarpotarsal-synostosis-syndrome - Genetics
  2. Melnick-Needles syndrome 
    ... by malformations in the tiny bones in the ears (ossicles), problems in the ... are usually of short stature, have an abnormal curvature of the spine ( ...
    https://medlineplus.gov/genetics/condition/melnick-needles-syndrome - Genetics
  3. JAG1 gene 
    ... to be part of the heart, liver, eyes, ears, and spinal column. The Jagged-1 protein ... these mutations result in an abnormally short Jagged-1 protein that is missing the segment ...
    https://medlineplus.gov/genetics/gene/jag1 - Genetics
  4. Carpenter syndrome 
    ... slanting palpebral fissures), low-set and abnormally shaped ears, underdeveloped ... unusually short fingers or toes (brachydactyly), or extra fingers or ...
    https://medlineplus.gov/genetics/condition/carpenter-syndrome - Genetics
  5. Kniest dysplasia 
    ... lead to blindness. Hearing loss resulting from recurrent ear infections is also possible. Kniest dysplasia is a ... and is present in the nose and external ears. Type II collagen is essential for the normal ...
    https://medlineplus.gov/genetics/condition/kniest-dysplasia - Genetics
  6. Spondyloperipheral dysplasia 
    ... and is present in the nose and external ears. Type II collagen is essential for the normal ... to cause the disorder. SPD Spondyloperipheral dysplasia with short ulna Genetic Testing Registry: Spondyloperipheral dysplasia Spondyloperipheral dysplasia- ...
    https://medlineplus.gov/.../condition/spondyloperipheral-dysplasia - Genetics
  7. Peters plus syndrome 
    ... plus syndrome include a prominent forehead; small, malformed ears; narrow eyes; a long area between the nose ... gene lead to the production of an abnormally short, nonfunctional version of the B3Glc-T enzyme, which ...
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
  8. Spondyloepimetaphyseal dysplasia, Strudwick type 
    ... and is present in the nose and external ears. Type II collagen is essential for the normal ...
    https://medlineplus.gov/...loepimetaphyseal-dysplasia-strudwick-type - Genetics
  9. Spondyloepiphyseal dysplasia congenita 
    ... Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss. Ear Nose Throat J. 2000 Mar;79(3):178- ...
    https://medlineplus.gov/.../spondyloepiphyseal-dysplasia-congenita - Genetics
  10. Platyspondylic lethal skeletal dysplasia, Torrance type 
    ... and is present in the nose and external ears. Type II collagen is essential for the normal ...
    https://medlineplus.gov/...c-lethal-skeletal-dysplasia-torrance-type - Genetics
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