Pfeiffer syndrome

Pfeiffer 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.

Pfeiffer syndrome (MIM 101600) patients have craniosynostosis with broad thumbs and/or great toes that are medially deviated.  Brachydactyly and variable degrees of syndactyly may occur.  Pfeiffer syndrome has been divided into three subtypes.  Type 1 is clinically the least severe and has the best prognosis. Patients have bicoronal craniosynostosis, moderate to severe midface hypoplasia and they usually have a normal life span and normal intelligence. About 5% of Pfeiffer syndrome type 1 patients have a specific FGFR1 mutation and about 95% have FGFR2 mutations. Pfeiffer syndrome type 2 patients have cloverleaf skulls, severe ocular proptosis, neurodevelopmental problems, elbow and knee ankylosis and foreshortened life spans. Type 3 is similar to type 2 but the skull is turribrachycephalic and patients also die young.  Type 2 and Type 3 are caused by FGFR2 mutations. Penetrance is complete and expressivity is variable in Pfeiffer syndrome.  Sporadic as well as familial cases occur. The prevalence of Pfeiffer syndrome is estimated as 1:100,000.


Genes(s)

FGFR1 FGFR2

Disease Group(s)

Craniosynostosis and Craniofacial Disorders

MIM

101600

Billing

81479 x 1,81404 x 1

Ordering

Test Code
1099

Additional Test Codes
FGFR1 Exon 10 and 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.