Crane-Heise syndrome

Crane-Heise syndrome is a very rare disorder characterized by an insufficiently mineralized skullcap, vertebral anomalies, missing clavicles and cranio-facial dysmorphism.

Facial dysmorphies include microglia, a cleft palate, hypertelorism and an anteverted nose. The delay of the intrauterine growth, as well as an aplasia of the clavicles, can be seen in all patients. There is often also an aplasia of the cervical vertebrae.

The prognosis for patients with Crane-Heise syndrome is extremely unfavorable. Most infants die shortly after birth.

The cause is not known yet. The inheritance is autosomal recessive.