What is the definition of Crouzon Syndrome?

Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few individuals with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. Individuals with Crouzon syndrome usually have normal intelligence.

What are the causes for Crouzon Syndrome?

Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene are thought to result in production of an FGFR2 protein with overactive signaling, which causes the bones of the skull to fuse prematurely.

How prevalent is Crouzon Syndrome?

Crouzon syndrome is seen in about 16 per million newborns. It is the most common craniosynostosis syndrome.

Is Crouzon Syndrome an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

  • Condition: Scoliosis in Goldenhar Syndrome
  • Journal: BMC musculoskeletal disorders
  • Treatment Used: Brace
  • Number of Patients: 1
  • Published —
This case report describes a 4-year-old boy was diagnosed with Goldenhar syndrome (progressive spinal deformity) treated with a brace.
  • Condition: Patients with Hemifacial Microsomia (HFM) using Unilateral Vertical Mandibular Distraction Osteogenesis (vMDO)
  • Journal: The Journal of craniofacial surgery
  • Treatment Used: Leveling Maxillary Occlusal Plane without Orthodontic Appliances
  • Number of Patients: 5
  • Published —
This study assessed maxillary occlusal plane correction in patients with hemifacial microsomia (abnormal development; HFM) after vertical vector mandibular distraction osteogenesis (vMDO) without orthodontic appliances.
Clinical Trial
  • Status: Not yet recruiting
  • Phase: Phase 1/Phase 2
  • Intervention Type: Drug
  • Participants: 15
  • Start Date: January 1, 2021
Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation
Clinical Trial
  • Status: Active, not recruiting
  • Phase: N/A
  • Intervention Type: Procedure
  • Participants: 30
  • Start Date: January 10, 2019
Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children With Craniofacial Microsomia