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Results 1 - 10 of 20 for craniofacial abnormalities
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. TXNL4A gene 
    ... have been shown to cause other conditions with abnormalities affecting the head and face (craniofacial malformations), so craniofacial development is thought to be ...
    https://medlineplus.gov/genetics/gene/txnl4a - Genetics
  7. SATB2 gene 
    ... roof of the mouth, dental abnormalities, or other abnormalities of the head and face (craniofacial anomalies). Some of these mutations are deletions of ...
    https://medlineplus.gov/genetics/gene/satb2 - Genetics
  8. PAX3 gene 
    ... a mutation) has been identified in individuals with craniofacial-deafness-hand syndrome, a condition characterized by distinctive facial features, profound hearing loss, and abnormalities of the hand muscles that can restrict movement. ...
    https://medlineplus.gov/genetics/gene/pax3 - Genetics
  9. WASHC5 gene 
    ... condition is called 3C syndrome because it affects craniofacial (head and face), cerebellar (brain), and cardiovascular (heart) development. People with 3C syndrome often have Dandy-Walker malformation, which is a structural abnormality of the part of the brain that coordinates ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  10. CTNND1 gene 
    ... in the development of the head and face (craniofacial development), including the eyelids and ... at birth and causes abnormalities mainly affecting the eyelids and mouth. These mutations ...
    https://medlineplus.gov/genetics/gene/ctnnd1 - Genetics
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