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Results 1 - 10 of 207 for Hypoplastic facial bones
  1. Trichorhinophalangeal syndrome type II 
    ... TRPS1 gene is thought to cause the other bone and facial abnormalities. Deletion of the RAD21 gene may contribute to ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-ii - Genetics
  2. Trichorhinophalangeal syndrome type I 
    ... of bone and other tissues, leading to abnormal bones in the fingers and toes, joint abnormalities, distinctive facial features, and other signs and symptoms of TRPS ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-i - Genetics
  3. Chromosome 8 
    ... TRPS1 gene is thought to cause the other bone and facial abnormalities. Deletion of the RAD21 gene may contribute to ...
    https://medlineplus.gov/genetics/chromosome/8 - Genetics
  4. TMCO1 gene 
    ... which is characterized by severe intellectual disability, distinctive facial features, and bone abnormalities that primarily involve the ribs and spinal bones ( ...
    https://medlineplus.gov/genetics/gene/tmco1 - Genetics
  5. Sialidosis 
    ... in late childhood and may include mildly "coarse" facial features, mild bone abnormalities, cherry-red spots, myoclonus, intellectual disability, and dark ...
    https://medlineplus.gov/genetics/condition/sialidosis - Genetics
  6. Osteoglophonic dysplasia 
    Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, short stature, and other features. The term osteoglophonic ...
    https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia - Genetics
  7. SF3B4 gene 
    ... cause Nager syndrome, which is primarily characterized by abnormalities of the face, hands, and arms, such as underdeveloped cheek bones (malar hypoplasia), a small lower jaw (micrognathia), and ...
    https://medlineplus.gov/genetics/gene/sf3b4 - Genetics
  8. TRPS1 gene 
    ... growth, people with TRPS1 gene mutations develop abnormal bones in the fingers and toes, joint abnormalities, distinctive facial features, and other signs and symptoms of TRPS ...
    https://medlineplus.gov/genetics/gene/trps1 - Genetics
  9. Cytochrome P450 oxidoreductase deficiency 
    ... infertility. Severe cases are also characterized by skeletal abnormalities, particularly involving bones of the head and face. These include premature fusion of the skull bones ( ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  10. AMER1 gene 
    ... including an unusually large head (macrocephaly) and abnormal facial features. Males who survive infancy have bone abnormalities and heart, gastrointestinal, and genitourinary malformations. AMER1 gene ...
    https://medlineplus.gov/genetics/gene/amer1 - Genetics
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