Saethre–Chotzen syndrome - Wikipedia
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.
Saethre-Chotzen Syndrome - Children's Hospital of Philadelphia
Saethre-Chotzen syndrome is a genetic disorder in which some seams of the skull fuse too early in prenatal development. It is a form of syndromic craniosynostosis.
Saethre-Chotzen syndrome | About the Disease | GARD - Genetic …
Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape and symmetry of the head and face.
Saethre Chotzen Syndrome - Symptoms, Causes, Treatment
2015年9月29日 · SCS is primarily characterized by premature closure of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis), distinctive facial variations, and/or variations of the fingers and toes (digits).
Saethre-Chotzen Syndrome - GeneReviews® - NCBI Bookshelf
2003年5月16日 · Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), strabismus, ptosis, and characteristic appearance of the ear (small pinna with a prominent superior and/or inferior crus).
Saethre-Chotzen syndrome - MedlinePlus
Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Saethre-Chotzen Syndrome - Boston Children's Hospital
Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones, which prevents the skull from growing normally and affects the shape of the head and face.
Saethre-Chotzen syndrome - Great Ormond Street Hospital
Saethre-Chotzen syndrome is a genetic condition, caused by a mutation (change) on a specific gene. Research has identified the affected gene as the TWIST1 gene, which contains instructions for making a protein needed for bone and muscle development in the head and face.
Saethre-Chotzen Syndrome - EyeWiki
Also known as acrocephalosyndactyly type III, Saethre-Chotzen syndrome (SCS) is characterized by craniofacial abnormalities in conjunction with neurological, skeletal, and cardiac defects.
Saethre-Chotzen syndrome - Children's Health
What is Saethre-Chotzen syndrome? Saethre-Chotzen syndrome (also know as acrocephalosyndactyly type III) is a congenital condition which occurs in about one in 25,000-50,000 births. It is inherited in an autosomal dominant fashion with variable expression.
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