Craniofacial anomalies – Crouzon syndrome
This syndrome is associated with craniosynostosis (premature closure of the bones in the skull). Approximately 5% of people with craniosynostosis will have Crouzon syndrome.
What causes Crouzon syndrome?
Can Crouzon syndrome occur more than once in a family?
In about 25- 50% of people Crouzon syndrome is sporadic. This means there is no family history of the syndrome and it is unlikely to occur again in another pregnancy.
Crouzon syndrome is a variable condition. This means that a person who has this syndrome may not show all the symptoms. They may not even know they have it until they have a child who happens to have more of the features of Crouzon syndrome.
Crouzon syndrome is an autosomal dominant condition, so if a parent has Crouzon syndrome they have a 50 % (1 in 2) chance for each pregnancy of having a child with Crouzon syndrome.
What are some of the features?
Is there genetic testing?
Jones K.L., Smith’s Recognizable Patterns of Human Malformation. 5th Edition. W.B. Soliders Company A Division of Harcourt Brace and Company, 1997.
Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 123500: 2000: