Pfeiffer syndrome

Pfeiffer syndrome (ACS5) is characterized by craniosynostosis, malformed thumbs and toes, and partial syndactyly of the fingers and toes. The syndrome is underlined in three types depending on the severity.

Type 1 patients have only mild forms of brachycephaly, midface hypoplasia, and finger and toe abnormalities.

Type 2 is characterized by reticule skulls, severe forms of proptosis, finger and toe anomalies, ankylosis or synostosis of the elbow, and mental retardation.

Type 3 overflows with the symptoms of Type 2 but has no cloverleaf skull.