Pfeiffer syndrome

Autosomal dominant disease

Synopsis

 craniofacial anomalies

• craniosynostosis
• turribrachycephaly
• occasional clover-leaf skull
• maxillary hypoplasia
• mandibular prognathism
• shallow orbits
• hypertelorism
• down-slanting palpebral fissures
• proptosis
• strabismus
• small nose with low nasal bridge
• choanal atresia or stenosis
• high arched palate
• dental crowding

 chondromalacia

• laryngomalacia
• tracheomalacia
• bronchomalacia

 craniosynostoses

• coronal craniosynostosis with or without
• +/- sagittal craniosynostosis

 limbs anomalies

• dadiohumeral synostosis of elbow
• broad thumb and broad great toe
• partial syndactyly of fingers and toes
• brachymesophalangy of hands and feet

 cerebral anomalies

• hydrocephalus
• Arnold-Chiari malformation

Subtypes

 Type 1: ’mild’ autosomal dominant
 Type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic
 Type 3: craniosynostosis, early demise, sporadic (Cohen, 1993).

Etiology

 Locus 8p11.2-p11.1: germline mutations in the gene FGFR1 coding for fibroblast growth factor receptor-1 (MIM.136350)

 Locus 10q26: germline mutations in the gene FGFR2 coding for fibroblast growth factor receptor-2 (MIM.176943)

See also:

 craniosynostosis
 FGFRs