Medicine:Curry–Jones syndrome
| Curry–Jones syndrome | |
|---|---|
| Specialty | Medical genetics |
| Symptoms | Multi-systemic |
| Usual onset | Birth |
| Duration | Lifelong |
| Causes | Somatic mosaic genetic mutation |
| Prevention | None |
| Treatment | Symptom-centred |
| Prognosis | Good |
| Frequency | 13 cases have been described in medical literature. |
| Deaths | - |
Curry–Jones syndrome is a rare genetic disorder which is characterized by brain, osseous, cutaneous, ocular, ans intestinal anomalies associated with congenital minor physical anomalies.
Signs and symptoms
Individuals with this condition usually have the following symptoms:[1][2]
- 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 being scarred and suffer from atrophy
- Eye, cheek and limb hair growth abnormalities
- Iris coloboma
- Microphthalmia
- Congenitally short gut
- Intestine malrotation
- Dysmotility
- Chronic constipation
- Intestinal bleeding
- Myofibroma
Additional findings that aren't seen as often as the other mentioned symptoms include:
- Developmental delays
- Variable intellectual disability
- Intraabdominal smooth muscle hamartomas
- Skin trichoblastoma
- Occipital meningoceles
- Desmoplastic medulloblastoma
Causes
This condition is caused by a somatic mosaic missense mutation located in SMOH gene, in chromosome 7. These mutations are present in less than 50% of body tissues. It is suggested that the mutation occurs post-zygotically during early embryonic life.[3]
Treatment
Treatment is done on the symptoms the disorder causes.
Epidemiology
According to OMIM,[4] this condition has been described in 13 people worldwide.[3][5][6][7][8]
Discovery
It was first discovered in 1995 by Temple et al. when he described 5 unrelated children, some of which had been described previously by Cohen et al. (1988)[9] and Gorlin et al. (1990).[4] These children had defects of the skin, gastrointestinal tract, and skull associated with polysyndactyly.[5]
References
- ↑ "Orphanet: Síndrome de Curry Jones" (in es). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=ES&Expert=1553.
- ↑ "Orphanet: Curry Jones syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1553&lng=EN.
- ↑ 3.0 3.1 Twigg, Stephen R. F.; Hufnagel, Robert B.; Miller, Kerry A.; Zhou, Yan; McGowan, Simon J.; Taylor, John; Craft, Jude; Taylor, Jenny C. et al. (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. PMID 27236920.
- ↑ 4.0 4.1 "OMIM Entry - # 601707 - Curry-Jones Syndrome; CRJS" (in en-us). https://www.omim.org/entry/601707.
- ↑ 5.0 5.1 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. https://pubmed.ncbi.nlm.nih.gov/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. https://pubmed.ncbi.nlm.nih.gov/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. https://pubmed.ncbi.nlm.nih.gov/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. https://pubmed.ncbi.nlm.nih.gov/18798318/.
- ↑ 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. https://pubmed.ncbi.nlm.nih.gov/3144990/.
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