Osteopathia striata with cranial sclerosis (OSCS; MIM 300373) is an X-linked dominant sclerosing bone dysplasia caused by inactivating mutations in the APC membrane recruitment protein 1 gene (AMER1, also known as FAM123B or WTX).  OSCS is lethal in most affected males.  The clinical findings in females include a dysmorphic , characteristic facies including macrocephaly, frontal bossing, broad nasal bridge, hypertelorism, abnormalities of the palate in combination with cranial sclerosis and linear striations in the metaphyses of long bones and pelvis.   Surviving affected males and some females may have multiple malformations involving the brain, gut, heart, kidneys, and teeth. Hearing loss and developmental disabilities are also common.  Surviving males typically do not have the characteristic linear bone striations.