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Pfeiffer syndrome

Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis) which affects the shape of the head and face. In addition, the syndrome includes abnormalities of the hands (such as wide and deviated thumbs) and feet (such as wide and deviated big toes). [Source: Wikipedia ]

OrphaNet reference
Pfeiffer syndrome 
Subtypes
Pfeiffer syndrome FGFR1-related
Pfeiffer syndrome FGFR2-related
May Cause
Absent nose
Absent thumb
Broad thumb
Broad toe
Choanal atresia
Choanal stenosis
Cloverleaf skull deformity
Congenital tracheal stenosis x
Craniosynostosis
Depressed nasal bridge
Elbow dislocation
Humerus-radius-ulna synostosis
Hydrocephalus
Hypertelorism
Hypoplastic thumb
Large thumb
Neuronal migration disorder
Short thumb
Small nose
Strabismus
Syndactyly
Vertebral malsegmentation
OrphaNet reference
Pfeiffer syndrome 
Subtypes
Pfeiffer syndrome FGFR1-related
Pfeiffer syndrome FGFR2-related
May Cause
Absent nose
Absent thumb
Broad thumb
Broad toe
Choanal atresia
Choanal stenosis
Cloverleaf skull deformity
Congenital tracheal stenosis x
Craniosynostosis
Depressed nasal bridge
Elbow dislocation
Humerus-radius-ulna synostosis
Hydrocephalus
Hypertelorism
Hypoplastic thumb
Large thumb
Neuronal migration disorder
Short thumb
Small nose
Strabismus
Syndactyly
Vertebral malsegmentation


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