Facial Appearance: Long, thin nose with
hypoplasia of alae nasi and anteverted nostrils; may have cleft lip or palate.
Ocular Anomalies: Microphthalmia, short palpebral fissures, epicanthal folds
and microcornea. The presence of open-angle glaucoma has been reported as a late
complication in 20% of patients. Dental: Enamel dysplasia with loose or
brittle teeth. Limb Anomalies: Syndactyly, camptodactyly. Skeletal:
Widespread osseous anomalies; mandibular overgrowth or micrognathia; broad
clavicles and long bones. Central Nervous System: Intelligence is usually
normal, but patients may have dysarthria, ataxia, or paraparesis. In the autosomal recessive type, calcification of basal ganglia, dilated ventricles, and
the presence of more severe skeletal involvement (e.g., spinal cord compression
from enlarged C1 vertebra) has been reported.