PFEIFFER SYNDROME

- ACROCEPHALOSYNDACTYLY TYPE V

• Autosomal dominant inheritance.
• Originally described in 1964 the syndrome consists of craniosynostosis, midface flattening, beaked nasal tip, ocular proptosis and broad medially deviated thumbs and great toes.
• Genetically heterogeneous. Some cases are linked to mutations at the fibroblast growth factor receptor 1 (FGFR 1) gene on chromosome 8p11.22-p12. Mutations at the FGFR 2 gene which maps at chromosome 10q25-q26 have also been reported.

CLASSIFICATION (1) / ULTRASOUND (2)

• Type 1 – Craniosynostosis with mild expression. Mild midfacial hypoplasia, little or no ocular proptosis, slightly broadened and minimally deviated thumbs and great toes, syndactyly and normal intelligence.
• Type 2 - Cloverleaf skull deformity and multiple congenital anomalies. Midfacial hypoplasia, ocular proptosis, multiple skeletal anomalies of the extremities (radio-ulnar-humeral synostosis, broad, deviated and contracted thumbs and great toes).
• Type 3 - Similar to type 2, with craniosynostosis but no cloverleaf skull is present.

Cranial anomalies	Brachycephaly Acrocephaly Craniosynostosis of the coronal suture
Facial anomalies	Hypertelorism Small nose Low nasal bridge
Hand and Feet anomalies	Partial syndactyly of 2^nd + 3^rd fingers Partial syndactyly of 2^nd, 3^rd and 4^th toes Broad thumb and big toe
	Frontal bossing Deep nasal bridge Proptosis

CLASSIFICATION OF ACROCEPHALOSYNDACTYLY

Link to Classification of Acrocephalosyndactyly

REFERENCES

1. Cohen MM Jr. Pfeiffer syndrome update: clinical subtypes and guidelines for differential diagnosis. Am J Med Genet 1993;45:745-750.
2. Bernstein PS, Gross SJ, Cohen DJ et.al. Prenatal diagnosis of type 2 Pfeiffer syndrome. Ultrasound Obstet Gynecol 1996;8:425-428.