Pfeiffer Syndrome: A Quick Review
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Pfeiffer syndrome (PS) is a rare acrocephalosyndactyly syndrome that includes inherited anomalies of the head, feet, and hands originally described by Rudolf Pfeiffer in 1964.
Due to the various clinical phenotypes, Cohen et al described the three subtypes.

Type 1 is also known as the “Classic” Pfeiffer syndrome described by Rudolf Pfeiffer who noticed the autosomal dominant inheritance pattern among families, and it is usually associated with a normal life span.

Type 2 consists of “cloverleaf skull” due to extreme fusion of the skull bones, severe proptosis, finger and toe abnormalities, elbow ankylosis or synostosis.

Type 3 is similar to type 2 except for the clover skull shaped deformity. Additionally, they have proptosis, visceral abnormalities (hydronephrosis, pelvic kidneys, and hypoplastic gallbladder), and severe neurological complication.

Mild variants tend to be familial and carry a relatively good prognosis. It is caused by mutations in the fibroblast growth factor receptor (FGFR ) genes, FGFR1 (on chromosome 8p11.2‐p11), and FGFR2 (on chromosome 10q26) that promotes early maturation of bone cells in a developing embryo and the premature fusion of bones in the skull, hands, and feet.

Pfeiffer syndrome has been found to be associated with anomalies of the upper airway which can lead to midface hypoplasia, secondary nasal obstruction, choanal atresia, and tracheal anomalies. Eye features in severe forms include shallow orbits, severe proptosis, cyclotorsion of the orbits, strabismus, and optic nerve compression from increased intracranial pressure. Since these babies have a very short life span, early death occurs within a few days after birth due to underlying visceral malformations especially airway malformations. PS is a rare disorder with heterogeneous clinical presentation, and it can easily be misdiagnosed.

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