Intelligence in these patients is normal. Common
features involve the head and neck (low-set ears, ptosis, limited eye
movements laterally and upward, abnormal retinal pigmentation, flattened
nose, round facies, frontal midline capillary hemangioma, micrognathia,
cleft palate), skeleton (scoliosis, dislocated hips, internally rotated and
adducted shoulders, fixed extended elbows, wrist deformities consisting of
flexion and ulnar deviation, talipes varus, syndactyly, camptodactyly,
amputation of digits), gastrointestinal tract (gastroschisis, intestinal
atresia, hypertrophic pyloric stenosis, gastric ulcers), and chest
(hypoplastic lungs, diaphragmatic hernia, hydrothorax). Lymphedema has been
observed.