Chromosome: 10q26
Gene: fibroblast growth factor receptor 2 (FGFR2)
Inheritance:
(1) autosomal dominant
(2) de novo sperm mutation
Clinical features:
(1) craniosynostosis (premature closure of the cranial sutures)
(2) acrocephaly (cone-shaped cranium due to craniosynostosis of the lambdoid and coronal sutures)
(3) midface hypoplasia with retrusion
(4) syndactyly of the hands and feet, with fusion of second through fourth fingers
(5) low-set ears and/or hearing loss
(6) progressive synostosis of multiple bones
(7) nonprogressive ventriculomegaly or hydrocephalus
(8) variable cleft palate
(9) variable dental abnormalities with relative prognathism (protrusion of the jaw) and malocclusion
(10) variable intellectual disability
(11) variable cardiac malformations
(12) variable gastrointestinal malformations
(13) variable genitourinary malformations
(14) prominent eyes with down-slanting palpebral fissures and strabismus
Complications:
(1) feeding problems
(2) hyperhidrosis
(3) multi-level airway obstruction
