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Results 91 - 100 of 153 for Short ear
  1. Cleidocranial dysplasia 
    ... hearing loss and are prone to sinus and ear infections. Some young children with this condition are ... is present in the nose, airways, and external ears.The RUNX2 protein is a transcription factor, which ...
    https://medlineplus.gov/genetics/condition/cleidocranial-dysplasia - Genetics
  2. CLCNKB gene 
    ... Kb channels are also located in the inner ear, where they play a role in normal hearing. ... is also found in the kidneys and inner ear. A combination of CLCNKA and CLCNKB gene mutations ...
    https://medlineplus.gov/genetics/gene/clcnkb - Genetics
  3. USH2A gene 
    ... is found in basement membranes in the inner ear and in the retina, which is the layer ... development and maintenance of cells in the inner ear and retina. The protein complex may also be ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  4. Saethre-Chotzen syndrome 
    ... growth line that goes over the head from ear to ear. Other parts of the skull may be malformed ... with Saethre-Chotzen syndrome also have small, rounded ears.The signs and symptoms of Saethre-Chotzen syndrome ...
    https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome - Genetics
  5. Kaufman oculocerebrofacial syndrome 
    ... the eyes that point upward (upslanting palpebral fissures). Ear abnormalities include low-set ears with small lobes and growths of skin (skin tags) in front of the ear (preauricular tags). The nose has a narrow bridge, ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  6. ACAN gene 
    ... is present in the nose, airways, and external ears.Aggrecan attaches to the other components of cartilage, ... elbows, hips, or ankles. Other common features are short stature and early development of a painful joint ...
    https://medlineplus.gov/genetics/gene/acan - Genetics
  7. CLRN1 gene 
    ... the body, including sensory cells in the inner ear called hair cells. These cells help transmit sound ... communication between nerve cells (neurons) in the inner ear and in the retina. Clarin 1 may be ...
    https://medlineplus.gov/genetics/gene/clrn1 - Genetics
  8. Xia-Gibbs syndrome 
    ... features, such as a broad forehead, low-set ears or ears that stick out, widely spaced eyes (hypertelorism), eye ... Xia-Gibbs syndrome lead to production of abnormally short AHDC1 proteins. The effects of these changes in ...
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
  9. Tetrasomy 18p 
    ... that can include unusually shaped and low-set ears, a small mouth, a flat area between the ... tetrasomy 18p can include seizures, vision problems, recurrent ear infections, mild to moderate hearing loss, constipation and ...
    https://medlineplus.gov/genetics/condition/tetrasomy-18p - Genetics
  10. Cranioectodermal dysplasia 
    ... people with this condition; these include low-set ears that may also be rotated backward, an increased ... the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics
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