Pfeiffer syndrome

Imported from OMIM

Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

Imported from Human Phenotype Ontology (HPO)

• Chiari malformation
• Choanal atresia
• Hydrocephalus
• Hypertelorism
• Strabismus
• Syndactyly
• Dental crowding
• Finger syndactyly
• Hypoplasia of the maxilla
• High palate
• Bronchomalacia
• Mandibular prognathia
• Elbow ankylosis
• Downslanted palpebral fissures
• Broad thumb
• Choanal stenosis
• Depressed nasal bridge
• Short nose
• Coronal craniosynostosis
• Shortening of all middle phalanges of the fingers
• Brachyturricephaly
• Cloverleaf skull
• Shallow orbits
• Broad hallux
• Humeroradial synostosis
• Intellectual disability
• Short middle phalanx of toe
• Tracheal cartilaginous sleeve