Home > D. Systemic pathology > Genetic and developmental anomalies > Pfeiffer syndrome

Pfeiffer syndrome

MIM.101600

Wednesday 1 December 2004

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

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