Crouzon Syndrome. Primarily characterized by premature closure of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis) and distinctive facial abnormalities

1. Crouzon syndrome
Dr Saddam Mazar

2. Octave Crouzon
• This syndrome is named
after Octave Crouzon, a
French physician who first
described this disorder.

3. Synonyms of Crouzon Syndrome
• Craniofacial Dysostosis
• Craniostenosis, Crouzon Type
• Crouzon Craniofacial Dysostosis
• Craniofacial dysarthrosis
• Craniofacial dysostosis syndrome
• Craniofacial dysostosis, type 1; CFD1
• Crouzon's Disease

4. Crouzon syndrome
• Primarily characterized by premature closure
of the fibrous joints (cranial sutures) between
certain bones in the skull (craniosynostosis)
and distinctive facial abnormalities
• Autosomal dominant genetic disorder known as a branchial arch
syndrome.
Specifically, this syndrome affects the first branchial (or pharyngeal)
arch, which is the precursor of the maxilla and mandible.

6. Craniosynostosis
Examples include:
• trigonocephaly (fusion of the metopic suture),
• brachycephaly (fusion of the coronal suture),
• dolichocephaly (fusion of the sagittal suture),
• plagiocephaly (unilateral premature closure of
lambdoid and coronal sutures),
• oxycephaly (fusion of coronal and lambdoidal
sutures),
• Kleeblattschaedel (premature closure of all
sutures) (cloverleaf skull deformity)

7. Signs & Symptoms
• Variable degree of cranial malformation
• Exophthalmos; Proptosis
• Hypertelorism
• External Strabismus. Sometimes, the various eye abnormalities can lead to a loss in vision.
• Psittichorhina (beak-like nose)
• Frontal bossing
• Midface hypoplasia: flat or underdeveloped mid-facial regions
• Hypoplastic maxilla with relative mandibular prognathism that gives the effect of the patient having a
concave face
• Short upper lip, Clefting of the lip and/or palate.
• highly arched narrow palate with crowded teeth, and upper and lower teeth that don’t meet when
biting (malocclusion).
• Approximately 30% of individuals with Crouzon syndrome develop hydrocephalus,
• Sensorineural hearing loss
• Crouzon syndrome is also associated with patent ductus arteriosus (PDA) and aortic coarctation.
• most Crouzon patients also have noticeably shorter humerus and femur bones relative to the rest
of their bodies
• A small percentage of Crouzon patients also have what is called "Type II" Crouzon syndrome,
distinguished by partial syndactyly.

9. Causes
• Mutations in one of the FGFR genes, most commonly
FGFR2. are inherited in an autosomal dominant manner.
• In most individuals, the disorder occurs because of
spontaneous (de novo) genetic mutations that occur in the
egg or sperm cell.
• FGR2 gene provides instructions for making a protein called
fibroblast growth factor receptor 2 located on
chromosome 10. Among its multiple functions, this protein
signals immature cells to become bone cells during
embryonic development. Mutations in the FGFR2 gene
probably overstimulate signaling by the FGFR2 protein,
which causes the bones of the skull to fuse prematurely.

10. Affected Populations
• Crouzon syndrome affects males and females.
• Crouzon syndrome is estimated to affect
about 1.6 in 100,000 people in the general
population.
• All forms of craniosynostosis are estimated to
affect about 1 in 2,000-2,5000 live births.
• It is the most common craniosynostosis
syndrome.

11. Related Disorders
(Differential diagnosis)
• Disorders associated with alterations of the FGFR2 gene include
• Apert syndrome,
• isolated coronal synostosis,
• Beare-Stevenson syndrome,
• Pfeiffer syndrome, and
• Jackson-Weiss syndrome.
• Crouzon syndrome with acanthosis nigricans (CAN) (Mutation of the FGFR3 gene)
• Saethre-Chotzen syndrome, also known as acrocephalosyndactyly type III,
• isolated craniosynostosis,
• Antley-Bixler syndrome,
• Baller-Gerold syndrome,
• Carpenter syndrome, and
• other acrocephalopolysyndactyly disorders.

12. Diagnosis
• Clinical evaluation
• computerized tomography (CT) scanning or
• magnetic resonance imaging (MRI), or other
imaging studies.
• Molecular genetic testing can detect
mutations in the FGFR2 gene known to cause
the disorder.

13. Standard Therapies
• Surgery is aimed to create and ensure that there
is enough room within the skull for the
developing brain to grow; to relieve intracranial
pressure (if present); and to improve the
appearance of an affected child’s head.
• open vault surgery or strip craniectomy (if child is
under 6 months) can be performed.
• Once treated for the cranial vault symptoms,
Crouzon patients generally go on to live a normal
lifespan.

15. Thank You