Crouzon's Syndrome
Emily Rodgers
Summary & Description
Crouzon's is a rare genetic disorder of the FGFR2 or FGFR3 genes, that occurs in about 16 out of 1 million babies. It is a dominant trait, so if one parent has Crouzon's syndrome there is a high chance the child will inherit it. Crouzon's can also occur as a spontaneous mutation in people with no family history of Crouzon's.
Typically, caniofacial abnormalities are noted at birth or very soon thereafter. Occasionally, these abnormalities are noted in utero on an ultrasound or may not be noted until later in infancy. If Crouzon's is suspected, because of a family history or because craniofacial abnormalities are noted, molecular genetic testing would be done to determine which type of craniofacial disorder the child has.
Some common key characteristics of Crouzon's syndrome are:
- Shallow eye sockets (bulging eyes)
- Strabismus (eyes pointing in different directions)
- Wide set eyes
- Visual impairment
- Hearing impairment
- Underdeveloped upper jaw/protruding lower jaw
- Dental abnormalities
Less commonly, Crouzon's causes:
- Intracranial Hypertension
- Cleft lip or palate
- Difficulty breathing through the nose
- Acanthosis Nigricans (a brown or black, poorly defined hyperpigmentation of the skin found in body folds)
Of the related genetic craniofacial disorders, Crouzon's has the highest risk of intracranial hypertension (IH), or high cerebrospinal fluid pressure. IH can cause severe headaches, impact vision due to swollen optic nerves, or cause a whooshing noise heard in rhythm with the pulse. Severe IH can cause hydrocephalus, or fluid buildup in the ventricles that put pressure on the brain, and can damage the tissue and cause intellectual impairments. This fluid pressure can also cause vomiting, irritability, and lethargy.
Crouzon's Syndrome may also be called:
- Craniofacial Dysarthrosis
- Craniofacial Dysotosis (Syndrome/Type 1; CFD1)
- Crouzon's Disease
People with Crouzon's at various ages at various stages in the surgery process:
Language and Learning Implications
As previously stated, hydrocephalus, which may occur as a result of Crouzon's syndrome, can cause problems with attention, and in severe situations, intellectual disability.
Children with Crouzon's Syndrome are also likely to have a hearing impairment, which can cause:
- Slow vocabulary development, especially with abstract and function words like "before," "jealous," "the" and "are"
- Difficulty producing and understanding long and/or complex sentences
- Misunderstanding and misuse of word endings used for verb tense, pluralization, non-agreement of subject and verb, and possessives
- Misarticulation or deletion of voiceless or "quiet" sounds such as "s" and "k"
- Pitch, loudness, speech rate, or inflection errors
Children with Crouzon's may also have cleft lip and/or palate which can impact articulation skills, such as:
- Difficulty producing consonants
- Nasal voice quality
- Difficulty directing airflow through the mouth rather than the nose
- Nasal or facial grimaces
Finally, children with Crouzon's syndrome may experience difficulty in school due to bullying because they are "different." This may impact their social skills.
Strategies for the Classroom and/or Home Setting
Parents and teachers need to consider the specific needs of their child, because children with Crouzon's Syndrome may have different difficulties, including hearing impairment, cleft lip/palate, and rarely attention difficulties or intellectual disability.
If your child is difficult to understand, or has errors in their speech or language due to clefts or hearing impairments some things you should do are:
- Enroll them in speech therapy
- Ask them to clarify what they said
- Repeat what they said correctly with emphasis on the sounds or words they need to improve on
- Encourage them to speak more slowly and carefully
If your child has attention difficulties or intellectual disability you may want to consider getting them evaluated by a school or developmental psychologist for recommendations and accommodations for the school setting.
Families of children with Crouzon's Syndrome may also want to get involved with an organization that can provide both emotional and practical support, such as contacts with surgeons and financial support. Many options are provided below under "External Links for Parents."
Tools for the Speech-Language Pathologist
Again, it is important to remember that children with Crouzon's Syndrome will have different strengths, difficulties, and needs. Some children with Crouzon's will need to be assessed and treated by the Speech-Language Pathologist (SLP) in their school, but some will not. A child with Crouzon's Syndrome may have hearing impairments, a cleft lip or palate, or intellectual disabilities that make them candidates for receiving speech therapy.
If the child has a hearing impairment, the SLP may need to work with the child on articulation or language skills at the word and sentence level. Some specific techniques that may be helpful are:
- Practicing auditory discrimination with an acoustic hoop
- Activities targeting word endings such as pluralization and past tense -ed (example below)
- Using minimal pairs activities that target voiced vs. voiceless sounds
- Cue card to improve volume regulation (example below)
Children with Crouzon's may also have a cleft lip or palate. This can cause difficulties with nasality and articulation. SLPs should consider using traditional articulation therapy that teaches correct articulatory placement. In addition, the SLP may use a mirror placed under the child's nose as feedback to show the child when air is directed through the nose and when it is not.
External Links for Parents
References
Intracranial Hypertension Research Foundation. (n.d.). Welcome. Retrieved April 30, 2015, from http://www.ihrfoundation.org/
Mayo Clinic. (2014, August 2). Hydrocephalus. Retrieved April 30, 2015, from http://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/CON-20030706
Nagarajan, R., Savitha, V., & Subramaniyan, B. (2009). Communication disorders in individuals with cleft lip and palate: An overview. Indian Journal of Plastic Surgery, 42, 137-143. Retrieved April 30, 2015, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2825064/
National Institute of Health. (2008, February 1). Crouzon syndrome. Retrieved April 30, 2015, from http://ghr.nlm.nih.gov/condition/crouzon-syndrome
National Organization for Rare Disorders. (2007). Crouzon Syndrome. Retrieved April 30, 2015, from https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/419/viewAbstract
Robin, N., Falk, M., & Haldeman-Englert, C. (2011, June 7). FGFR-Related Craniosynostosis Syndromes. Retrieved April 30, 2015, from http://www.ncbi.nlm.nih.gov/books/NBK1455/
Seattle Children's Hospital. (n.d.). Crouzon Syndrome Treatment. Retrieved April 30, 2015, from http://www.seattlechildrens.org/medical-conditions/bone-joint-muscle-conditions/crouzon-treatment/