Can involve head and neck (mandibular hypoplasia,
Pierre-Robin sequence [micrognathia, glossoptosis, cleft palate/uvula],
flattened nose and cheek bones, anteverted nares), limbs (shortening of the long
bones, short fingers, and metacarpals, fusion of the carpal bones,
restricted joint mobility, metaphyseal flaring, large tarsal bones,
prominent interphalangeal joints), and axial skeleton (enlarged odontoid in childhood,
platyspondyly, anterior vertebral wedging, coronal vertebral clefts,
kyphosis, scoliosis, square iliac wings). Other features may include
ventricular septal defect, recurrent lower respiratory tract infections,
hemangiomas, and lacrimal duct abnormalities.