Curry–Jones syndrome


Curry–Jones syndrome


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:

  • 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.

Management

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

Epidemiology

Curry–Jones syndrome has been described in 13 people worldwide.

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. By 1988, it was recognized by the name of Curry–Jones syndrome.

References

External links


Text submitted to CC-BY-SA license. Source: Curry–Jones syndrome by Wikipedia (Historical)



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