Apert Syndrome Differential Diagnoses

Updated: Aug 21, 2018
  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Maria Descartes, MD  more...
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DDx

Diagnostic Considerations

Mutations of the human FGFR s have also been identified as the cause of other craniosynostosis syndromes, including Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Beare-Stevenson syndrome, cutis gyrata, Antley-Bixler syndrome, and Muenke syndrome, as well as skeletal dysplasias such as achondroplasia and thanatophoric dysplasia. These conditions are described as follows [15, 16, 17, 18, 19, 20, 21] :

  • Beare-Stevenson syndrome (OMIM 123790): Patients present with mental retardation and associated cutaneous disorders, including cutis gyrata and acanthosis nigricans; patients with Beare-Stevenson syndrome may have FGFR2 mutations

  • Carpenter syndrome (OMIM 201000): This condition is autosomal recessive; patients present with a peculiar face, absence of osseous fusion of hand bones, and preaxial polydactyly of hands, feet, or both

  • FGFR3 -associated coronal synostosis syndrome: Patients present with variable clinical presentation overlapping with Pfeiffer, Jackson-Weiss, or Saethre-Chotzen syndrome phenotypes; some individuals with a disease-causing mutation may have no clinical problems

  • Jackson-Weiss syndrome (OMIM 123150): Patients present with enlarged or broad great toes with varus deviation and tarsal or metatarsal fusion, lack of thumb abnormalities, and craniofacial features, suggesting Pfeiffer syndrome; patients may have FGFR2 mutations

  • Pfeiffer syndrome (OMIM 101600): Patients present with hand and foot abnormalities characterized by broad thumbs and halluces with occasional cutaneous syndactyly; they also exhibit mild cranial deformities and lack of osseous fusion of the phalanges; approximately 67% of patients with Pfeiffer syndrome have identifiable mutations in FGFR1 and FGFR2

  • Saethre-Chotzen syndrome (OMIM 101400): Patients exhibit characteristic facies, relatively mild cranial deformity, and lack of osseous fusion of the hand bones; approximately 75% of patients with Saethre-Chotzen syndrome have identifiable mutations in the TWIST gene

Differential Diagnoses