Crouzon syndrome

Inheritance

How is Crouzon syndrome inherited?

Crouzon syndrome is usually inherited in an autosomal dominant pattern. Everyone has two copies of their FGFR2 gene; one comes from your mother and one comes from your father. When a person has a specific harmful change known as a mutation in one copy of their FGFR2 gene, they have a genetic diagnosis of Crouzon syndrome. Sometimes a FGFR2 gene mutation associated with Crouzon syndrome is inherited from a parent, and sometimes it happens brand new (de novo) in a child for the first time. Crouzon syndrome with acanthosis nigricans caused by the specific FGFR3 gene mutation (p.Ala391Glu, p. A391G, or c.1172C>A) is also inherited in an autosomal dominant pattern.

There has been one reported family where a brother and sister were affected with Crouzon syndrome, but neither parent was affected. The individuals involved in this published paper suggested a recessive form of Crouzon syndrome.

References
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What percentage of cases of Crouzon syndrome is familial, and what percentage is de novo (where FGFR2 gene mutation happens brand new in child and is not inherited from a parent)?

If a person is affected with Crouzon syndrome and has a known FGFR2 gene mutation, what is the chance that his/her children will be affected?

What percentage of cases of Crouzon syndrome is familial, and what percentage is de novo (where FGFR2 gene mutation happens brand new in child and is not inherited from a parent)?

About 50% of cases of Crouzon syndrome are familial and are inherited from parents. About 50% of cases of Crouzon syndrome are de novo (spontaneously occurring) and appear in an individual for the first time due to a new gene change or mutation.

If a person is affected with Crouzon syndrome and has a known FGFR2 gene mutation, what is the chance that his/her children will be affected?

If a person is affected with Crouzon syndrome and has a known FGFR2 gene mutation, there is a 50% chance that each of his/her children will inherit the FGFR2 gene mutation and be affected. Clinical features and severity of these features cannot be predicted though.

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