Which condition is characterized by a variable degree of brachydactyly?

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Pfeiffer syndrome is characterized by various skeletal abnormalities, one of which can include brachydactyly, a condition marked by shortened fingers and toes. This syndrome results from mutations in the FGFR1 or FGFR2 genes and presents with craniosynostosis (premature fusion of skull bones), broad, short thumbs, and toes, and sometimes other digital anomalies such as brachydactyly.

While other conditions mentioned in the choices might have some skeletal features, they are not as specifically associated with brachydactyly to the extent seen in Pfeiffer syndrome. For example, Carpenter syndrome is more often linked to syndactyly than to brachydactyly, and Saethre-Chotzen syndrome features craniosynostosis and facial asymmetry but does not prominently include brachydactyly. Similarly, Muenke syndrome also involves craniosynostosis but does not typically present with significant brachydactyly. Thus, Pfeiffer syndrome is the most relevant condition for the notable characteristic of variable brachydactyly among the options provided.

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