Synonym: craniofacial dysostosis
Inheritance: autosomal dominant with variable expression, but a significant percentage of cases are associated with a de novo mutation
Chromosomal location: 10q25-q26
Gene affected: fibroblast growth factor receptor 2 (FGFR2)
Key features:
(1) shallow orbits with ocular proptosis with or without hypertelorism
(2) premature craniosynostosis
(3) maxillary hypoplasia
Associated findings may include:
(1) frontal bossing
(2) inverted C-shape to the palate
(3) conductive hearing loss
(4) cranium with short AP and wide lateral diameters
(5) hydrocephalus
Complications:
(1) exposure conjunctivitis or keratitis
(2) upper airway obstruction
(3) optic atrophy or impaired vision
(4) increased intracranial pressure secondary to the premature craniosynostosis
Patients usually have normal intellect and normal limbs.
Differential diagnosis:
(1) fetal head constraint
(2) Saethre-Chotzen syndrome
(3) Muenke syndrome
