Crouzon syndrome
Overview
What is Crouzon syndrome?
Crouzon syndrome is a rare, genetic condition that causes the bones in the skull to fuse too early (craniosynostosis). This premature fusing causes the skull to grow abnormally and affects the head and the face. Many of the facial features seen in Crouzon syndrome are also the result of this early fusion and include abnormal growth of the bones that cause wide-set and bulging eyes, vision problems that may include strabismus (eyes that do not point in the same direction) and a jaw that is underdeveloped. Other common features of Crouzon syndrome include dental problems, hearing loss, narrow ear canals, and spine abnormalities. Signs and symptoms of Crouzon syndrome vary. The intelligence of people with Crouzon syndrome is typically normal.
More Overview Content
Are there other names for Crouzon syndrome?
How common is Crouzon syndrome?
What is the usual abbreviation for Crouzon syndrome?
Are any other genetic conditions similar to Crouzon syndrome?
Are there other names for Crouzon syndrome?
There are other names for Crouzon syndrome. They include:
- Craniofacial Dysostosis, Type I
- Craniostenosis, Crouzon Type
- Crouzon Craniofacial Dysostosis
Further subdivisions of Crouzon syndrome include:
- Oxycephaly-Acrocephaly
- Virchow's Oxycephaly
How common is Crouzon syndrome?
The incidence of Crouzon syndrome has been reported to be between 1 in 25,000 and 1 in 62,500 births. This incidence may be underestimated because some people with mild features may not be diagnosed.
References
- http://www.ncbi.nlm.nih.gov/books/NBK1455/
- Renier D, Lajeunie E, Arnaud E, Marchac D: Management of Craniosynostoses. Childs Nerv Syst 16:645?658, 2000. PMID: 11151714
- http://rarediseases.org/rare-diseases/crouzon-syndrome/
What is the usual abbreviation for Crouzon syndrome?
Crouzon syndrome is usually not abbreviated, but it can be referred to as CFD1 (Craniofacial Dysostosis Type I).
References
Are any other genetic conditions similar to Crouzon syndrome?
There are other genetic conditions that are similar to Crouzon syndrome. Early fusion of the skull bones (craniosynostosis) is seen in many of these conditions. These include the following:
- Pfeiffer syndrome. Features of this condition include craniosynostosis, certain facial features, hearing loss, and malformations of the fingers and toes. Malformations of the fingers and toes include wide thumbs and big toes that bend away from the other fingers and toes, short fingers and toes (brachydactyly), and fusion/webbing of fingers and toes (syndactyly).
- Apert syndrome. Features of this condition include craniosynostosis, certain facial features, and fusion/webbing of fingers and toes (syndactyly).
- Seathre-Chotzen syndrome. Features of this condition include craniosynostosis, certain facial features, small and unusually shaped ears, and mild abnormalities of the hands and feet.
- Jackson-Weiss syndrome. Features of this condition include craniosynostosis, certain facial features, and foot abnormalities.
