Medicine:Craniosynostosis, Adelaide type
From HandWiki
| Craniosynostosis, Adelaide type | |
|---|---|
| Other names | CRSA |
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:[1][3]
- 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.[2]
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.[2]
References
- ↑ 1.0 1.1 "Craniosynostosis, Adelaide type (Concept Id: C1833578)" (in en). https://www.ncbi.nlm.nih.gov/medgen/371600.
- ↑ 2.0 2.1 2.2 "Entry - %600593 - CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA - OMIM". https://omim.org/entry/600593?search=Craniosynostosis,%20Adelaide%20type&highlight=adelaide%20craniosynostosi%20type.
- ↑ 3.0 3.1 "Craniosynostosis, Adelaide type - NIH Genetic Testing Registry (GTR) - NCBI". https://www.ncbi.nlm.nih.gov/gtr/conditions/C1833578/.
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