Cayler Syndrome, also known as “Asymmetric Crying facies with Cardiac Defects,” is an extremely rare disorder characterized by Congenital Heart Defects (CHD) and the underdevelopment or absence of one of the muscles that control the movements of the lower lip.
The disorder is present at birth (congenital) and is usually first noticed when the infant cries or smiles. Half of the lower lip cannot be drawn down and outward because of the incomplete development (hypoplasia) or absence (agenesis) of the depressor anguli oris muscle.
Congenital Heart Defects associated with Cayler Syndrome may include Ventricular Septal Defects (VSD), Atrial Septal Defects (ASD), and/or Tetralogy of Fallot (TOF).
In some rare cases, individuals may have an abnormally small head (microcephaly), unusually small jawbones (micrognathia), small eyes (microphthalmos), and/or mental retardation. Most cases of Cayler syndrome are thought to be inherited as an autosomal dominant trait.
Source: WebMD
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