What is the genetic cause of Williams syndrome?
Williams syndrome is caused by a partial deletion of up to 28 genes on chromosome 7. This means that a section of genetic material on chromosome 7 is missing. It is believed that some of these genes are involved in the production of elastin.
What is William’s Syndrome?
Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age.
What type of genetic disorder is Marfan syndrome?
Marfan syndrome is inherited as an autosomal dominant trait, meaning that only one abnormal copy of the Marfan gene inherited from one parent is sufficient to have the condition. Defects or deletions (pathogenic variants) of the fibrillin-1 (FBN1) gene have been shown to cause Marfan syndrome.
Which is the best description of congenital craniofacial abnormalities?
Overview of Congenital Craniofacial Abnormalities. NOTE: This is the Professional Version. Congenital craniofacial abnormalities are a group of defects caused by abnormal growth and/or development of the head and facial soft-tissue structures and/or bones.
What are the different types of facial anomalies?
Certain groups of signs and symptoms are known as syndromes, and there are several that result in telltale facial anomalies: Apert syndrome: A craniofacial abnormality characterized by an abnormal head shape, small upper jaw, and fusion of the fingers and toes.
What kind of birth defect is the cloverleaf skull?
Kleeblattschadel syndrome: A very rare birth defect characterized by abnormalities of the skull and facial bones. It is caused by a premature fusing of almost all of the fibrous sutures. It is also called cloverleaf skull. Oxycephaly: A birth defect characterized by abnormalities in the skull and facial bones.
What kind of birth defect causes shortness of head?
Brachycephaly: A birth defect characterized by the disproportionate shortness of the head. It is caused by a premature fusing of the coronal suture. Brachycephaly is commonly associated with a number of syndromes, such as Apert, Crouzon, Pfeiffer, Saethre-Chotzen and Carpenter.