Condition |
Minimal diagnostic criteria |
Apert syndrome |
Craniosynostosis, midface hypoplasia, symmetrical syndactyly of hands and feet |
Crouzon syndrome |
Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis, normal extremities |
Muenke syndrome |
Unilateral or bilateral coronal synostosis, absent or minimal hand/foot anomalies |
Pfeiffer syndrome |
Craniosynostosis, high forehead, maxillary hypoplasia, mild syndactyly of hands and/or feet, broad thumbs and/or great toe |
Saerthre-Chotzen syndrome |
Brachycephaly/plagiocephaly +/- evidence for craniosynostosis, high forehead, facial asymmetry, maxillary hypoplasia, brachydactyly, partial cutaneous syndactyly in some cases, thumb/great toe anomalies |