major features include : ( 1 ) poorly mineralized calvarium , ( 2 ) dysmorphic facies ( cleft lip and palate , micrognathia , upturned nares , apparent ocular hypertelorism ) , and ( 3 ) extracranial and musculoskeletal anomalies ( absence of cervical vertebrae and clavicles , talipes equilnorvarus , and soft tissue syndactyly ) .
C0025990
micrognathia
C0151491
musculoskeletal anomalies