The disease mainly involves the head and neck
(brachycephaly, micrognathia, partial facial hypoplasia, multifocal growth
retardation involving vomer, nasoseptal cartilage, and mandibular condyles,
indicative of maxillomandibular growth arrest, short hard palate with
central defect, absent soft palate and uvula, glossoptosis, webbed neck,
posterior nuchal skin folds) and the skeleton (kyphoscoliosis, narrow rib
cage, severe costovertebral abnormalities, multiple posterior rib gap
defects filled with fibrovascular tissue resulting in flail chest, pectus
carinatum). Mental retardation, neural tube defects, absence of the
olfactory bulbs, impaired hearing, intrauterine and postnatal growth
retardation, pulmonary hypoplasia with neonatal respiratory distress, and
cardiac disease (ventricular septal defect) can be associated with this
disorder. One case was reported with hypoplastic left heart syndrome, and
another case involved omphalocele and cystic hygroma. In more than half of the
patients, death occurs in the first year of life and usually results from
respiratory complications.