Curry–Jones syndrome explained

Curry–Jones syndrome
Synonyms:	Corpus callosum agenesis-polysyndactyly syndrome
Symptoms:	Multi-systemic
Onset:	Birth
Duration:	Lifelong
Risk:	-->
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

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

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 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]

Notes and References

1. Web site: Orphanet: Curry Jones syndrome . 2022-06-29 . www.orpha.net . en.
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 . 10.1016/j.ajhg.2016.04.007 . 1537-6605 . 4908219 . 27236920.
3. Web site: OMIM Entry - # 601707 - Curry-Jones Syndrome; CRJS . 2022-06-29 . www.omim.org . en-us.
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 . 10.1097/00019605-199504000-00003 . 0962-8827 . 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 . 10.1097/00019605-199901000-00015 . 0962-8827 . 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 . 10.1097/01.mcd.0000194406.85052.de . 1473-5717 . 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 . 10.1002/ajmg.a.32503 . 1552-4833 . 18798318. 12265879 .
8. Book: Syndromes with Craniosynostosis: Miscellaneous Syndromes . Syndromes of the Head and Neck . Gorlin RJ, Cohen MM, Levin LS . 3 . Oxford University Press . New York . 1990 . 0-19-504518-1.
9. Cohen . M. M. . 1988 . Craniosynostosis update 1987 . American Journal of Medical Genetics. Supplement . 4 . 99–148 . 10.1002/ajmg.1320310514 . 1040-3787 . 3144990.