Crouzon syndrome

The craniosynostosis syndromes are a group of disorders sharing the premature fusion of one or more sutures of the skull. Often additional anomalies are associated. There are eight craniosynostosis disorders caused by mutations in three fibroblast growth factor receptor genes: FGFR1, FGFR2 and FGFR3. All are autosomal dominant. Penetrance varies with the specific craniosynostosis type. Many FGFR mutations are associated with advanced paternal age.

Crouzon syndrome (MIM 123500) is one of the most common craniosynostosis syndromes. It is caused by mutations in the FGFR2 gene. Patients have coronal or multiple suture synostosis, resulting in brachycephaly, scaphocephaly or trigonocephaly. Other findings include maxillary hypoplasia, prognathism, a prominent beaked nose, downslanting palpebral fissures, shallow orbits and ocular proptosis. About one half of the cases are familial and one half are de novo, and correlate with increased paternal age. Intelligence is usually normal and brain abnormalities are rare, although progressive hydrocephalus does occur and may be associated with cerebellar herniation. Vision and hearing deficits occur. Fusion of cervical vertebrae is seen, but hands and feet appear normal although radiographs may reveal metacarpophalangeal profile shortening. Penetrance is typically complete but variable expressivity has been reported. The incidence is 1.6:100,000.


Genes(s)

FGFR2

Disease Group(s)

Craniosynostosis and Craniofacial Disorders

MIM

123500

Billing

81404 x 1

Ordering

Test Code
1094

Additional Test Codes
FGFR2 Exons 8 & 10 only

Turnaround Time
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samplesGenomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)

Non-Prenatal Specimens
Whole blood: purple-top (EDTA) tube, minimum of 3 mlGenomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)Fibroblasts: 2 confluent T-25 flasksSaliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted

Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze. For additional shipping information, please visit our shipping page.

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.