The syndrome associates a bird-like facies with
hypoplastic mandible (in all dimensions) and “parrot-beaked” nose,
microphthalmia, and congenital cataract. The cornea is small (diameter <11
mm) and coloboma is common, confirming the early disturbance of eye
development. Hypoplastic mandible, high arched palate, microstomia,
glossoptosis, natal teeth (inconstant), and hypodontia with malformed teeth
contribute to the recognizable facial features of the patients.
Proportionate dwarfism, hypotrichosis, skin atrophy, hypoplastic clavicles
and ribs, and daytime hypersomnolence are usual. Mental retardation is
observed in 15% of patients. Because of a narrow upper airway and most
often associated tracheomalacia, there is a danger of upper airway
obstruction, particularly during the neonatal period and infancy.
Obstruction may be a result of small nares and glossoptosis secondary to
micrognathia, which may result in cor pulmonale. Tracheomalacia is a
frequent complication that can lead to chronic respiratory insufficiency
(subsequent biventricular cardiac failure and death has been reported in a
6-month-old infant). Sleep apnea is common in these patients.