Hunter et al. (1977) identified 6 members of family with characteristic facial features, including microcephaly, almond-shaped palpebral fissures, and downturned or small mouth, mental retardation, mild skeletal anomalies, short stature, and craniosynostosis.
Van Maldergem et al. ... Hunter et al. (1977) identified 6 members of family with characteristic facial features, including microcephaly, almond-shaped palpebral fissures, and downturned or small mouth, mental retardation, mild skeletal anomalies, short stature, and craniosynostosis. Van Maldergem et al. (1990) and Ades et al. (1993) reported 3 additional patients with similar features. Thomas et al. (1996) reported a patient and suggested the designation Hunter-McAlpine syndrome for this disorder. There is phenotypic overlap with Ruvalcaba syndrome (180870).