Pfeiffer's syndrome

an autosomal dominant dysostosis characterized by variable cranial and extracranial features, including craniosynostosis, partial soft tissue syndactyly, premature closure of the coronal sutures, maxillary retrusion and broad thumbs and toes, sometimes with hallux valgus deformity. Three subtypes of the syndrome are recognized. Type I is the classic Pfeiffer's syndrome; type II is characterized by cloverleaf skull, severe proptosis and ankylosis of the elbows; and in type III the cloverleaf skull is not present but the elbow ankylosis can be noted. Fusion of the cervical spine, cone-shaped epiphyses and hypoplastic bones about the elbow are additional features. Also, see acrocephalosyndactyly.

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