Curry–Jones syndrome
| Curry–Jones syndrome | |
|---|---|
| Other names | Corpus callosum agenesis-polysyndactyly syndrome |
| Specialty | Medical genetics |
| Symptoms | Multi-systemic |
| Usual onset | Birth |
| Duration | Lifelong |
| Causes | Mosaic genetic mutation in SMO |
| Prevention | None |
| Management | Depends on symptoms |
| Frequency | 13 cases described in medical literature |
Curry–Jones syndrome is a rare genetic disorder characterized by congenital brain, osseous, cutaneous, ocular, and intestinal anomalies.
Signs and symptoms
[edit]Individuals with this condition usually have the following symptoms:[1]
- One-sided coronal craniosynostosis
- Multiple suture synostosis
- Agenesis of the corpus callosum that can either be complete or partial
- Polysyndactyly, preaxial type
- Hand/foot syndactyly
- Pearl-white areas in the skin that are prone to scarring and suffer from atrophy
- Eye, cheek, and limb hair growth abnormalities
- Iris coloboma
- Microphthalmia
- Congenital short gut
- Intestinal malrotation
- Dysmotility
- Chronic constipation
- Intestinal bleeding
- Myofibroma
Some individuals may also display the following features:
- Developmental delays
- Variable intellectual disability
- Intra-abdominal smooth muscle hamartomas
- Skin trichoblastoma
- Occipital meningoceles
- Desmoplastic medulloblastoma
Causes
[edit]This condition is caused by mosaic missense mutations in the SMO gene on chromosome 7. The causative mutation is typically present in less than 50% of an individual's body tissues. It is suggested that the mutation occurs post-zygotically during early embryonic development.[2]
Management
[edit]Management of Curry–Jones syndrome depends on an individual's symptom profile.
Epidemiology
[edit]Curry–Jones syndrome has been described in 13 people worldwide.[2][3][4][5][6][7]
Discovery
[edit]The first case of Curry–Jones syndrome was reported by Cynthia J.R. Curry et al. at the 1987 David W. Smith Workshop on Malformations and Morphogenesis. A similar patient was reported by M.C. Jones.[8] By 1988, it was recognized by the name of Curry–Jones syndrome.[9]
References
[edit]- ^ "Orphanet: Curry Jones syndrome". www.orpha.net. Retrieved 2022-06-29.
- ^ a b Twigg, Stephen R. F.; Hufnagel, Robert B.; Miller, Kerry A.; Zhou, Yan; McGowan, Simon J.; Taylor, John; Craft, Jude; Taylor, Jenny C.; Santoro, Stephanie L.; Huang, Taosheng; Hopkin, Robert J. (2016-06-02). "A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome". American Journal of Human Genetics. 98 (6): 1256–1265. doi:10.1016/j.ajhg.2016.04.007. ISSN 1537-6605. PMC 4908219. PMID 27236920.
- ^ "OMIM Entry - # 601707 - Curry-Jones Syndrome; CRJS". www.omim.org. Retrieved 2022-06-29.
- ^ Temple, I. K.; Eccles, D. M.; Winter, R. M.; Baraitser, M.; Carr, S. B.; Shortland, D.; Jones, M. C.; Curry, C. (1995-04-01). "Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome". Clinical Dysmorphology. 4 (2): 116–129. doi:10.1097/00019605-199504000-00003. ISSN 0962-8827. PMID 7606318.
- ^ Mingarelli, R.; Mokini, V.; Castriota Scanderbeg, A.; Dallapiccola, B. (1999-01-01). "Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation". Clinical Dysmorphology. 8 (1): 73–75. doi:10.1097/00019605-199901000-00015. ISSN 0962-8827. PMID 10327257.
- ^ Thomas, Ellen R. A.; Wakeling, Emma L.; Goodman, Frances R.; Dickinson, John C.; Hall, Christine M.; Brady, Angela F. (2006-04-01). "Mild case of Curry-Jones syndrome". Clinical Dysmorphology. 15 (2): 115–117. doi:10.1097/01.mcd.0000194406.85052.de. ISSN 1473-5717. PMID 16531740.
- ^ Grange, Dorothy K.; Clericuzio, Carol L.; Bayliss, Susan J.; Berk, David R.; Heideman, Richard L.; Higginson, Julie K.; Julian, Stephanie; Lind, Anne (2008-10-15). "Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway". American Journal of Medical Genetics. Part A. 146A (20): 2589–2597. doi:10.1002/ajmg.a.32503. ISSN 1552-4833. PMID 18798318. S2CID 12265879.
- ^ Gorlin RJ, Cohen MM, Levin LS (1990). "Syndromes with Craniosynostosis: Miscellaneous Syndromes". Syndromes of the Head and Neck (3 ed.). New York: Oxford University Press. ISBN 0-19-504518-1.
{{cite book}}: CS1 maint: multiple names: authors list (link) - ^ Cohen, M. M. (1988). "Craniosynostosis update 1987". American Journal of Medical Genetics. Supplement. 4: 99–148. doi:10.1002/ajmg.1320310514. ISSN 1040-3787. PMID 3144990.