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Results 1 - 10 of 28 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. 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
  3. 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
  4. 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
  5. 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
  6. Craniofacial-deafness-hand syndrome 
    ... abnormalities.The distinctive facial features of people with craniofacial-deafness-hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. Affected individuals ...
    https://medlineplus.gov/.../craniofacial-deafness-hand-syndrome - Genetics
  7. SATB2-associated syndrome 
    ... by intellectual disability, severe speech problems, dental abnormalities, abnormalities of the head and face (craniofacial anomalies), and behavioral problems. Some of the common ...
    https://medlineplus.gov/genetics/condition/satb2-associated-syndrome - Genetics
  8. Burn-McKeown syndrome 
    ... 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/condition/burn-mckeown-syndrome - Genetics
  9. Freeman-Sheldon syndrome 
    ... primarily affects muscles in the face and skull (craniofacial muscles) and can often affect joints in the hands and feet. The condition is characterized by abnormalities known as contractures, which result from permanent tightening ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
  10. Cerebro-facio-thoracic dysplasia 
    ... symptoms of the condition. Cerebrofaciothoracic dysplasia CFSMR CFTD Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Pascual- ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
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