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Results 1 - 10 of 35 for Hypoplasia of the ear cartilage
  1. Cartilage-hair hypoplasia 
    ... with a normal immune system. Most people with cartilage-hair hypoplasia, even those who have milder immune deficiency, experience infections of the respiratory system, ears, and sinuses. In particular, the chicken pox virus ( ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  2. CHST3-related skeletal dysplasia 
    ... and is present in the nose and external ears. Mutations in the CHST3 gene reduce or eliminate the activity of the C6ST-1 ... This ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  3. VEXAS syndrome 
    ... have inflammation of the joints (arthritis), skin (dermatitis), cartilage ... cell abnormalities are common in VEXAS syndrome. Most affected individuals ...
    https://medlineplus.gov/genetics/condition/vexas-syndrome - Genetics
  4. Craniofacial microsomia 
    ... give rise to the muscles, arteries, nerves, and cartilage of the face and neck. ... characteristic of craniofacial microsomia.There are several factors ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
  5. SLC26A2 gene 
    ... and is present in the nose and external ears.Cartilage cells use sulfate ions transported by the SLC26A2 ... microscope. Because much of the skeleton develops from cartilage before ... skeletal abnormalities seen in achondrogenesis type 1B. More About This ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  6. Fibrochondrogenesis 
    ... have sensorineural hearing loss, which is caused by abnormalities of the inner ear. Fibrochondrogenesis appears to be a rare disorder. About ... is later converted to bone, except for the cartilage that continues to cover and ... in the nose and external ears. Type XI collagen is also part of the ...
    https://medlineplus.gov/genetics/condition/fibrochondrogenesis - Genetics
  7. COL2A1 gene 
    ... normal development of joints, eyes, and the inner ear. Type II collagen is found primarily in cartilage, a tough, flexible tissue that makes up much ... that is present in the nose and external ears. Type II collagen is particularly ... in a form of cartilage known as hyaline cartilage, which is found in ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  8. Alpha-N-acetylgalactosaminidase deficiency 
    ... mild cognitive impairment and hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). They may also experience a ...
    https://medlineplus.gov/...lpha-n-acetylgalactosaminidase-deficiency - Genetics
  9. Multiple epiphyseal dysplasia 
    ... curving of the fingers or toes (clinodactyly), or ear swelling. An abnormality of the kneecap called a double-layered patella ... is later converted to bone, except for the cartilage that continues to cover and ... ears.The majority of individuals with dominant multiple epiphyseal ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics
  10. Pseudoachondroplasia 
    ... and is present in the nose and external ears.The COMP protein is normally found in the spaces between cartilage-forming cells called chondrocytes, where it interacts with ...
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia - Genetics
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