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Results 91 - 100 of 113 for Short ear
  1. Christianson syndrome 
    ... long, narrow face with prominent nose, jaw, and ears; an open mouth and uncontrolled drooling; and abnormal ... the SLC9A6 gene typically lead to an abnormally short NHE6 protein that is nonfunctional or that is ...
    https://medlineplus.gov/genetics/condition/christianson-syndrome - Genetics
  2. FG syndrome 
    ... have a distinctive facial appearance including small, underdeveloped ears; a tall, prominent forehead; and outside corners of ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
  3. Roberts syndrome 
    ... the mouth (cleft palate), a small chin (micrognathia), ear abnormalities, wide-set eyes (hypertelorism), outer corners of ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  4. Mosaic variegated aneuploidy syndrome 
    ... as a broad nasal bridge and low-set ears. Some affected individuals have brain abnormalities, the most ... people with MVA syndrome type 2 have unusually short arms. Individuals with MVA syndrome type 2 do ...
    https://medlineplus.gov/.../mosaic-variegated-aneuploidy-syndrome - Genetics
  5. Trichorhinophalangeal syndrome type I 
    ... a broad nose with a rounded tip; large ears, a long, smooth area between the nose and ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-i - Genetics
  6. Mucolipidosis II alpha/beta 
    ... respiratory infections. Affected individuals may also have recurrent ear infections, which can lead to hearing loss. Mucolipidosis ...
    https://medlineplus.gov/.../condition/mucolipidosis-ii-alpha-beta - Genetics
  7. Mucolipidosis III alpha/beta 
    ... over time. Affected individuals may also develop frequent ear and respiratory infections. About half of people with ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  8. Activated PI3K-delta syndrome 
    ... in childhood, particularly in the lungs, sinuses, and ears. Over time, recurrent respiratory tract infections can lead ... p85α protein, sometimes causing it to be abnormally short. These variants are classified as gain-of-function ...
    https://medlineplus.gov/.../condition/activated-pi3k-delta-syndrome - Genetics
  9. Fragile X-associated tremor/ataxia syndrome 
    ... seen in fragile X syndrome, such as prominent ears, anxiety, and mood swings. FMR1 An increased risk ...
    https://medlineplus.gov/...agile-x-associated-tremor-ataxia-syndrome - Genetics
  10. CHST3-related skeletal dysplasia 
    ... and is present in the nose and external ears. Mutations in the CHST3 gene reduce or eliminate ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
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