Craniomicromelic syndrome

Definition

A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under-ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.