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Results 1 - 10 of 49 for craniofacial abnormalities
  1. Osteoglophonic dysplasia 
    ... growth that leads to severe head and face (craniofacial) abnormalities, short stature, and other features. The term osteoglophonic ... osteoglophonic dysplasia depends on the extent of the craniofacial abnormalities. People with abnormalities that obstruct the air passages ...
    https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia - Genetics
  2. FGFR1 gene 
    ... condition show abnormal bone growth that leads to craniofacial abnormalities, including the premature fusion of certain bones in ... in the arms and legs, leading to the craniofacial abnormalities and shortened limbs seen in people with osteoglophonic ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  3. MN1 gene 
    ... found to have developmental delay, intellectual disabilities, and craniofacial abnormalities. While these features are similar to those of ... MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. Am J Hum Genet. 2020 Jan 2;106( ...
    https://medlineplus.gov/genetics/gene/mn1 - Genetics
  4. HCFC1 gene 
    ... in the development of the skull and face (craniofacial abnormalities). These variants occur in regions of the protein ...
    https://medlineplus.gov/genetics/gene/hcfc1 - Genetics
  5. TCOF1 gene 
    ... crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A. 2006 ...
    https://medlineplus.gov/genetics/gene/tcof1 - Genetics
  6. Cleidocranial dysplasia 
    ... Piana G. Cleidocranial dysplasia: etiology and stomatognathic and craniofacial abnormalities. Minerva Stomatol. 2010 Mar;59(3):117-27. ...
    https://medlineplus.gov/genetics/condition/cleidocranial-dysplasia - Genetics
  7. RUNX2 gene 
    ... Piana G. Cleidocranial dysplasia: etiology and stomatognathic and craniofacial abnormalities. Minerva Stomatol. 2010 Mar;59(3):117-27. ...
    https://medlineplus.gov/genetics/gene/runx2 - Genetics
  8. Treacher Collins syndrome 
    ... crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A. 2006 ...
    https://medlineplus.gov/genetics/condition/treacher-collins-syndrome - Genetics
  9. MN1 C-terminal truncation syndrome 
    ... MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. Am J Hum Genet. 2020 Jan 2;106( ...
    https://medlineplus.gov/.../mn1-c-terminal-truncation-syndrome - Genetics
  10. Craniofacial microsomia 
    ... hypoplasia, breathing may also be affected.People with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
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