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Results 1 - 10 of 146 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. 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
  4. 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
  5. 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
  6. Galactosialidosis 
    ... have dark red spots on the skin (angiokeratomas), abnormalities in the bones of the spine, "coarse" facial features, a cherry-red spot, vision loss, and ...
    https://medlineplus.gov/genetics/condition/galactosialidosis - Genetics
  7. Sandhoff disease 
    ... this disorder. Some affected children also have distinctive facial features, enlarged organs (organomegaly), or bone abnormalities. Children with the infantile form of Sandhoff disease ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  8. Oral-facial-digital syndrome 
    ... particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects. Oral-facial-digital syndrome has an estimated incidence of 1 ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  9. Cranioectodermal dysplasia 
    ... dolichocephaly) due to abnormal fusion of certain skull bones (sagittal craniosynostosis). A variety of facial abnormalities can occur in people with this condition; these ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics
  10. Schinzel-Giedion syndrome 
    ... Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected ...
    https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome - Genetics
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