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Results 71 - 80 of 113 for Short ear
  1. 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
  2. Pseudoachondroplasia 
    ... and is present in the nose and external ears.The COMP protein is normally found in the ... chondrocytes prevents normal bone growth and causes the short stature and bone abnormalities seen in pseudoachondroplasia. COMP ...
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia - Genetics
  3. 2q37 deletion syndrome 
    ... philtrum), prominent cheekbones, a large chin, and minor ear abnormalities.Other features of 2q37 deletion syndrome can ... isolated skeletal abnormalities including brachydactyly type E and short stature. Am J Med Genet A. 2015 Jan; ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  4. Geleophysic dysplasia 
    ... an enlarged liver (hepatomegaly) and recurrent respiratory and ear infections. In severe cases, a narrowing of the ... how mutations in the ADAMTSL2 gene lead to short stature, heart disease, and the other features of ...
    https://medlineplus.gov/genetics/condition/geleophysic-dysplasia - Genetics
  5. 3p deletion syndrome 
    ... a small jaw (micrognathia), droopy eyelids (ptosis), malformed ears or nose, and widely spaced eyes (hypertelorism). Other ... unbalanced translocation are missing genetic material from the short arm of chromosome 3, which results in the ...
    https://medlineplus.gov/genetics/condition/3p-deletion-syndrome - Genetics
  6. Recombinant 8 syndrome 
    ... eyes (hypertelorism); and low-set or unusually shaped ears. People with recombinant 8 syndrome may have overgrowth ... undescended testes (cryptorchidism). Some affected individuals have recurrent ear infections (otitis media), hearing loss, or hand and ...
    https://medlineplus.gov/genetics/condition/recombinant-8-syndrome - Genetics
  7. Gorlin-Chaudhry-Moss syndrome 
    ... growth line that goes over the head from ear to ear. These changes can result in a head that ... at the ends of the fingers and toes (short distal phalanges). Affected females have unusually small external ...
    https://medlineplus.gov/.../condition/gorlin-chaudhry-moss-syndrome - Genetics
  8. Mucopolysaccharidosis type III 
    ... and symptoms of MPS III can include frequent ear and throat infections or bowel problems, though most ... experience chronic diarrhea and recurrent upper respiratory and ear infections. People with MPS III may also have ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iii - Genetics
  9. Multiple epiphyseal dysplasia 
    ... curving of the fingers or toes (clinodactyly), or ear swelling. An abnormality of the kneecap called a ... and is present in the nose and external ears.The majority of individuals with dominant multiple epiphyseal ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics
  10. Thiamine-responsive megaloblastic anemia syndrome 
    ... and is caused by abnormalities of the inner ear (sensorineural hearing loss). The hearing loss usually worsens ... may not be as active in the inner ear, the bone marrow (where blood cells are made), ...
    https://medlineplus.gov/...-responsive-megaloblastic-anemia-syndrome - Genetics
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