Saethre-Chotzen syndrome is a rare genetic disorder that is closely related to Crouzon syndrome. These syndromes belong to a group of genetic disorders that are characterized by premature closure of the cranial joints or sutures between various bones of the skull.
The pressure caused by brain growth can result in a number of distinct distortions to the face and head. These include a pointed-like head, webbing or fusion of certain fingers or toes, an underdeveloped midface resulting in sunken cheekbones, prominent and/or wide-set eyes, low set hairline and drooping of the upper eyelids. Other common features include vision problems, hearing loss and in some cases, although it is less common, mild to moderate mental retardation. Your child may also experience nasal airway obstruction due to an underdeveloped midface and a high arched palate. These features may also cause speech problems and a cleft palate.
What causes Saethre-Chotzen syndrome?
Saethre-Chotzen syndrome appears to be linked to a sporadic and rare gene alteration. The parents are usually not affected and risk to future children is minimal. The offspring of an Saethre-Chotzen patient have a 50 to 60 percent chance of inheriting the syndrome due to the dominant nature of the gene.
The craniofacial team at Children's Hospital & Medical Center will develop a carefully staged plan that involves multiple surgeries to minimize the effects of the disorder. During your child's first year of life, surgery is performed to release the cranial sutures to allow for brain growth and expansion. Additional surgery may be required as indicated to allow for further brain growth later in life. Other surgeries may be required to correct the mid facial deformities as well as jaw surgery. Many children will need to have eye muscle surgery performed by a pediatric ophthalmologist to correct the imbalance of the muscular structures of the eye in addition to the drooping eyelids.