Pfeiffer syndrome (PS, OMIM #101600) is an inherited craniofacial disorder that is associated with primary craniosynostosis, midface hypoplasia, broad thumbs and great toes, and soft tissue syndactyly of hands (usually second and third digits) and feet of varying severity. Most of the affected patients have associated conductive hearing loss.
Rudolf Pfeiffer first described a syndrome of acrocephalosyndactyly associated with hypertelorism, antimongoloid slant, broad thumbs, great toes, and normal intelligence in 1964. He reported 8 cases through 3 generations of a family, with two instances of male-to-male transmission, suggesting an autosomal dominant mode of inheritance.
It is also known as type V acrocephalosyndactyly, craniofacial-skeletal-dermatologic dysplasia, or Noack syndrome.
Acrocephalosyndactyly syndromes involving premature closing of the cranial sutures are:
Type I: Apert syndrome
Type II: Vogt/Crouzon syndrome
Type III: Saethre–Chotzen syndrome
Type IV: Waardenburg syndrome
Type V: Pfeiffer syndrome
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