Pfeiffer syndrome

The Pfeiffer syndrome is a rare, autosomal dominant inherited disease. It is grouped with the Apert syndrome, Crouzon the syndrome, Carpenter syndrome, and Saethre - Chotzen syndrome to the craniofacial malformations.

It affects about one in 100,000 people. The Pfeiffer syndrome can be detected prenatally by ultrasonography evidence craniosynostosis, hypertelorism with a proptosis ( protrusion of the eyeball) and broad thumb. It can be determined by molecular analysis, if a repetition risk and the causative mutation is known. This analysis is important for the diagnosis.

Cause

Caused the syndrome caused by mutations in the genes FGFR -1 and FGFR -2 (fibroblast growth factor receptor 1 and 2).

Main features of Pfeiffer syndrome

• Short Skull
• Flat occiput
• Pronounced brow
• Long eye relief
• Underdeveloped midface
• Low -set ears
• Width, outward end members of the thumb and big toe
• In part, the index and middle finger and the second grown together to 4th toe
• Middle phalanges of fingers are shortened
• Triangular shape of the thumb and big toe links ( X-ray)

Types

There are three different types. Between the types, there may be clinical transitions.

Type 1 is the "classic" Pfeiffer syndrome. Those affected have normal intelligence and have a slight expression of brachycephaly, the Mittelgesichthypoplasie and finger and toe abnormalities. The prognosis is generally good.

Type 2 refers to patients with a cloverleaf skull, a severe form of the proptosis and the anomalies of fingers and toes, with ankylosis or synostosis of the elbow. Sufferers have a developmental delay and neurological complications.

Type 3 is exactly like type 2, however, the parties have no cloverleaf skull.

A treatment to correct facial and skull is now in interdisciplinary centers specializing possible with the participation of disciplines oral and maxillo -facial surgery, neurosurgery and plastic surgery.