Hunter-Mcalpine Craniosynostosis Syndrome

Clinical Features

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).

Cytogenetics

Thomas et al. (1996) described a sporadic case who also had an interstitial deletion of 17q23.1-q24.2, suggesting the possibility that Hunter-McAlpine syndrome maps to that region.

In affected individuals of the family described by Hunter et al. (1977) and in the patient described by Ades et al. (1993), Hunter et al. (2005) identified cryptic translocations resulting in duplication of 5q35-qter. Subtelomeric FISH analysis in the family reported by Hunter et al. (1977) revealed the presence of 5qter material on the short arm of chromosome 13; all obligate carriers had the balanced translocation t(5;13). The patient reported by Ades et al. (1993) had an extra 5q signal present on 1q, indicating a duplication of 5qter and monosomy of 1qter. Hunter et al. (2005) noted similarities in clinical features between these cases and other reported cases with duplication of this chromosome segment.

Inheritance

The pedigree pattern in the family reported by Hunter et al. (1977) supported autosomal dominant inheritance.