The skull has been described as brachycephalic. The midface is flat due to maxillary hypoplasia. The lower jaw is prominent and some patients have mandibular prognathism. A bifid uvula or partial clefting of the palate are common. Low-set and posteriorly rotated ears have been reported as well.
Both pectus excavatum and pectus carinatum have been described. The teeth have dysplastic enamel and often have obliterated pulp chambers and dental cysts. Their roots may be shortened and deformed and they are often lost early. Vertebrae may have fusion of the spines, particularly in the cervical area. A mixed type of hearing loss is common and some degree of intellectual disability is often evident, especially in older individuals. Most males have some degree of hypospadias. Cryptorchidism has been reported in one individual.
Brain imaging in one case revealed no abnormalities.