Craniosynostosis, Adelaide type explained

Craniosynostosis, Adelaide type
Synonym:	CRSA
Cause:	-->
Risk:	-->
Management:	-->
Incidence:	or
Prevalence:	-->
Eponym:	-->

Craniosynostosis, Adelaide type (CRSA) is a syndrome characterized by cone-shaped epiphyses, phalangeal hypoplasia, and carpal bone malsegmentation along with craniosynostosis.^{[1] [2] [3]}

Signs and symptoms

Features of this condition include:

• Limbs: carpal bone malsegmentation, hallux valgus, shortening of all distal phalanges of the fingers, shortening of all middle phalanges of the fingers
• Musculoskeletal system: cone-shaped epiphyses of the phalanges of the hand, cone-shaped epiphyses of the toes, craniosynostosis

History

This condition was first reported in 1994 in a southern Australian family. The family was initially thought to have Jackson-Weiss syndrome, however further testing in 1995 determined the condition was excluded from the allelism of other craniosynostosis syndromes.

Causes

The condition's exact genetic origin is not known with certainty, but 2 plausible candidate genes (MSX1 and FGFR3) have been identified through limitation down to chromosome 4.

Notes and References

1. Web site: Craniosynostosis, Adelaide type (Concept Id: C1833578) . 2023-09-14 . www.ncbi.nlm.nih.gov . en.
2. Web site: Entry - %600593 - CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA - OMIM . 2023-09-14 . omim.org.
3. Web site: Craniosynostosis, Adelaide type - NIH Genetic Testing Registry (GTR) - NCBI . 2023-09-14 . www.ncbi.nlm.nih.gov.