Typically evident at or shortly after birth. The
head is acrocephalic and often called the “tower-shaped skull”
(turricephaly), resulting from craniosynostosis including coronal, sagittal,
and lambdoid sutures. Increased intracranial pressure may occur. The skull
can appear brachycephalic (short and broad). Other features include facial
anomalies of hypertelorism, mild downward slanting of the palpebral
fissures, microcornea, corneal opacity, and optic atrophy. The nose appears
dysplastic with depressed nasal bridge, the ears are low-set, and upper and
lower jaws are hypoplastic with a narrow and high arched palate. The
syndrome often is associated with brachydactyly, with absence of the middle
phalanges, cutaneous syndactyly, and presence of supernumerary toes.
Polydactyly is not as frequent. Congenital heart defects present in up to
50% of cases (atrial septal defect, ventricular septal defect, patent
ductus arteriosus, tetralogy of Fallot, pulmonary stenosis, and
transposition of great vessels have been reported). Mild-to-moderate obesity
and cryptorchidism occur in affected males. Mental retardation most often is
present, but some patients with normal intelligence have been reported.