Craniomicromelic Syndrome

Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.

Epidemiology

Only 4 cases have been reported in the literature in 3 unrelated families.

Clinical description

Dysmorphic features include 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 be observed. Prognosis is poor.

Etiology

The condition is most probably hereditary, transmitted as an autosomal recessive trait.