Synonyms

Fibroblast growth factor receptor (FGFR) ; related craniosynostosis; acrocephalosyndactyly 

Defect

FGR2 gene –affects receptor that interact with FGF (signaling molecules)

Brief Description

Characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).

Incidence

1 in 100,000 ; 1 :65,000 – 88,0000

Manifestation

Bicoronal craniosynostosis or clover leaf skull, or distinctive facial features and variable hands and foot findings (fused thumbs and fingers and toes syndactyly); occasional visceral problem. 

Inheritance

Autosomal dominant but can be a “de novo” mutation

Prognosis

Dependent on surgery and age when done ; intelligence varies from normal to mental deficiency 

Treatment/Management

  • Medical:  cornea protection, upper airway obstruction, sleep apnea, ear infection with hearing deficit, psychological and social support
  • Surgical: cranial surgery, ear tubes, nasal surgery, orbital surgery, midfacial surgery, etc.
  • Multidisciplinary

References