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Results 1 - 10 of 24 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. 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
  6. 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
  7. 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
  8. 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
  9. Spondyloepiphyseal dysplasia with metatarsal shortening 
    ... and protect the ends of bones and the cartilage that is present in the nose and external ears. Type II collagen is essential for the normal ...
    https://medlineplus.gov/...seal-dysplasia-with-metatarsal-shortening - Genetics
  10. Schwartz-Jampel syndrome 
    ... and is present in the nose and external ears.Perlecan has multiple functions, including cell signaling and the normal maintenance of basement membranes and cartilage. The protein also plays a critical role at ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
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