Crouzon's Syndrome
Description of Crouzon’s Syndrome
Crouzon’s syndrome, or craniofacial dystosis, is a rare deformity that is closely related to Apert’s syndrome. Although many of the physical deficiencies associated with Apert’s are not present in the Crouzon’s Syndrome patient, both are thought to have similar genetic origins. Of the 10,000 infants born each day in the United States, it is estimated that one of these infants will have Crouzon’s syndrome.
Characteristics of Crouzon’s Syndrome
Crouzon’s Syndrome patients have three distinct features:
- Craniosynostosis most often of the coronal and lambdoid, and occasionally sagittal sutures
- Underdeveloped midface with receded cheekbones or exophthalmos (bulging eyes)&
- Ocular Proptosis which is a prominence of the eyes due to very shallow orbits. The patient may have crossed eyes and/or wide-set eyes.
Some other features commonly seen in these Crouzon’s Syndrome patients are visual disturbances related to an imbalance of the muscle that move the eyes and hearing loss due to recurrent ear infections. The mental capacity of Crouzon’s Syndrome patients is usually in the normal range, however some mental delay has been reported.
Causes of Crouzon’s Syndrome
The cause of Crouzon’s Syndrome, like many of the other syndromal craniosynostosis, has been found to be linked to a gene alteration. Their occurrence is sporadic and extremely rare. Usually, the parents are not affected and the risk for future children of that couple is minimal. The offspring of an Crouzon’s Syndrome patient have a 50-60% chance of inheriting Crouzon’s Syndrome due to the dominant characteristics of this gene.
Expectations and Treatment of Crouzon’s Syndrome
Children with Crouzon’s Syndrome generally have normal intelligence although occasionally some reduced intellectual capacity can be seen. Because of the underdeveloped midface and high arched palate, nasal airway obstruction is not uncommon. Unusual resonance and speech patterns can develop from the small nose, the high arched palate, or the malocclusion. A cleft palate can be associated with Crouzon’s Syndrome and is repaired as it is with any other cleft patient. As with other cleft patients, there can be hearing problems due to recurrent ear infections. With proper treatment, these Crouzon’s Syndrome patients can be productive and active members of mainstream society.
Multiple staged surgery is the general treatment plan for patients with Crouzon’s Syndrome. In the first year of life it is preferred to release the synostotic sutures of the skull to allow adequate cranial volume to allow for brain growth and expansion. Skull reshaping may need to be repeated as the child grows to give the best possible results. In addition, depending on the severity of the skull deformity, this procedure may be done in one stage or two stages. If necessary, midfacial advancement and jaw surgery can be done to provide adequate orbital volume and reduce the exophthalmus to correct the occlusion to an appropriate functional position and to provide for a more normal appearance of the Crouzon’s Syndrome patient.
Additional Information
Crouzon Syndrome is a hereditary condition. If a parent has Crouzon Syndrome, the chances that one or all of their children will have it are nearly 50%. Conversely, if neither parent has the disorder, the chances that a child will be born with this syndrome is low. Children with Crouzon Syndrome have a number of characteristics, such as wide-set eyes (hypertelorism), mid-facial deficiency, palettal anomalies, and air-way obstructions.
5-10% of all Crouzon Syndrome cases will be Crouzon Syndrome AN (Acanthosis Nigricans). Children with this variation of Crouzon Syndrome will have dark, rough folds of skin – in the armpits, groin, etc. The discoloration is generally noticeable between ages 2 and 4, and usually stops developing around age 12.
Extensive medical care is required for children with Crouzon Syndrome. Some important considerations are:
- Early detection of eye problems via vision therapy:
a) Eye alignment
b) Eye tearing
c) Eye focusing abilities
d) Eye movements
e) Visual processingSpecialized computer and optical devices, including therapeutic lenses, prisms and filters help to develop visual motor skills. - Relief of airway obstruction:
- Close audiologic follow-up to detect hearing loss:
- Speech management:
- Genetic Counseling: Genetic consultation is offered to parents of children with Crouzon Syndrome.
Cleft palate affects speech and feeding in babies. Surgery is the primary treatment for cleft palate. During and after the feeding process, parents should help the baby burp, since babies with cleft palate tend to swallow more air while feeding. Speech therapy may be required through the growing years. Early diagnosis of Crouzon Syndrome is important, helping to prevent hearing disability. Treatment depends on the diagnosis of the obstruction. In general, airway control is achieved through tracheotomy to intubation in severe cases. This is an appropriate non-surgical treatment for amblyopia, or ‘lazy eye’. Vision therapy is used to correct eye movements and visual motor deficiencies. Therapy includes exercises that are designed to enhance the brain’s ability to control.
A new surgical technique called Distraction Osteogenesis (craniofacial disjunction followed by gradual bone distraction and reshaping), helps to correct protruding eyes and assist in the functional and aesthetic improvement of the face without the need for bone grafting in children between 6 and 11 years of age. Distraction Osteogenesis can also be used on children less than 6 years of age, on a case-by-case basis. Early intervention is required for skull reshaping, eye protection and airway management.
Craniofacial research focuses on developing cutting edge clinical diagnostics and therapies so that doctors can offer their patients the best possible treatment options.
More Information:
Crouzon Syndrome generally occurs in infants. In the developmental stage, the infant’s cranial and facial bones fuse or are not able to expand. This incomplete growth leads to abnormal growth patterns of the skull.
Causes and Symptoms Of Crouzon Syndrome
Crouzon Syndrome is caused by gene mutation or may be the result of environmental influences disrupting the normal growth of the embryo.
Crouzon Syndrome disrupts the development of the embryo, resulting in complicated changes. Symptoms include low set ears, bulging eyes due to shallow sockets, abnormal distance between the eyes and a beak-like nose.
Diagnosis And Treatment
After examining an infant, it is easy to diagnose Crouzon Syndrome. Xrays, magnetic resonance imaging (MRIs) and genetic testing are used to confirm the diagnosis.
Surgery is used to prevent the cranial sutures from fusing and damaging brain development. Besides cranial surgical intervention, extensive facial, orthodontic and cosmetic surgery is also required.
There are many medical experts involved in the treatment of Crouzon Syndrome – Neurosurgeons, Neuroradiologists, Orthodontists, Dentists and Ophthalmologists.
Crouzon Syndrome – Cutting-Edge Procedures
There are new advanced clinical diagnostic and treatment procedures available for children with Crouzon Syndrome:
- 3-D Imaging: 3-D color images help doctors view the extent of the abnormalities in great detail. This helps in charting a course of treatment and also aids in communication between the doctor and the child’s parents
- Distraction Ostogenesis: This technique involves moving two segments of bone gradually apart, so that a new bone grows in the gap. It is used to treat the abnormal growth of the upper two-thirds of the face.
- Nasoalveolar Molding or NAM: This non-surgical procedure is used to reshape the gums, nostrils and lips, before surgery on the cleft lip and palate.
How Can Parents Help Children with Crouzon Syndrome
• Boost their self-esteem by involving them in a hobby or a sport in which they are interested.
- Children afflicted with Crouzon syndrome need a close parental connection. As a child struggles with the facial abnormalities, so do parents. If parents don’t answer the child’s questions, they may begin to feel that it is really bad and shameful.
- Educate your child in such a way that they are able to explain their condition to other children without feelings of awkwardness. A calm explanation can help the child overcome teasing.
- Always focus on your child’s abilities and strengths, and praise him or her frequently.
