Crouzon Syndrome is a genetic disorder that is characterized by the premature fusion of the certain skull bones (craniosynostosis). This early fusion prevents normal growth and affects the shape of head and face.


  1. Abnormal growth of skull bones
  2. Wide set, bulging eyes
  3. Vision problems due to shallow eye sockets
  4. Strabismus ( eyes not pointing in the same direction)
  5. Beaked nose
  6. Underdeveloped upper  jaw
  7. Dental problems
  8. Hearing loss with narrow ear canals
  9. Cleft lip and palate
  10. Mental retardation

This is the most common type of craniocynostosis syndrome. It occurs in around 16 per million births.


Mutation in FGFR1 gene causes Crouzon syndrome. These mutaions overstimulate signalling by the FGFR2 protein which causes the skull bones to fuse prematurely. This syndrome is inherited in an autosomal dominant pattern, which means that even one copy of the altered gene in each cell is sufficient to cause the disorder.

One affected parent can cause this syndrome. But it’s also seen in people who have no family history of the disorder in the family.

Speech and Language Characteristics

  1. Language Characteristics – Delayed and deviant language may be observed, but not usually because of poor mental abilities. Children with Crouzon syndrome have average intelligence. The language is affected usually die to hearing loss and other environmental factors like frequent surgeries and negative social image
  2. Articulation – Children having cleft lip/palate have misarticulations of sound produced from the lips and the palate. Even otherwise, poor dental structures cause misarticulations too.
  3. Voice – Hypernasal voice is common as there velopharyngeal insufficiency is commonly seen in Crouzon syndrome. High arched palate and a small nose also attribute to a resonating voice. Vocal nodules also tend to occur causing hoarse voice.
  4. Hearing loss and poor communicaton skills

Emotional and Psychosocial problems

Children with Crouzon syndrome have atypical facial features which makes them look very different from their peers. This aspect makes the children withdrawn. Such children have poor social communicative skills and are easily teased and bullied by others.


A host of professionals is involved in the overall treatment of children with this syndrome. From craniofacial syndromes to speech therapists, everyone aims to make these children breathe, eat, sleep, communicate and become as independent as possible.