Curry–Jones syndrome
Other namesCorpus callosum agenesis-polysyndactyly syndrome
SpecialtyMedical genetics
SymptomsMulti-systemic
Usual onsetBirth
DurationLifelong
CausesMosaic genetic mutation in SMO
PreventionNone
ManagementDepends on symptoms
Frequency13 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

Individuals with this condition usually have the following symptoms:[1]

Some individuals may also display the following features:

Causes

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

Management of Curry–Jones syndrome depends on an individual's symptom profile.

Epidemiology

Curry–Jones syndrome has been described in 13 people worldwide.[2][3][4][5][6][7]

Discovery

The first case of Curry–Jones syndrome was reported by C. Curry at the 1987 David W. Smith Workshop on Malformations and Morphogenesis. A similar patient was reported by M.C. Jones.[3] By 1988, it was recognized by the name of Curry–Jones syndrome.[8]

References

  1. ↑ "Orphanet: Curry Jones syndrome". www.orpha.net. Retrieved 2022-06-29.
  2. 1 2 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.
  3. 1 2 "OMIM Entry - # 601707 - Curry-Jones Syndrome; CRJS". www.omim.org. Retrieved 2022-06-29.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.