CurryâJones 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 |
CurryâJones syndrome is a rare genetic disorder characterized by congenital brain, osseous, cutaneous, ocular, and intestinal anomalies.
Individuals with this condition usually have the following symptoms: [1]
Some individuals may also display the following features:
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 of CurryâJones syndrome depends on an individual's symptom profile.
CurryâJones syndrome has been described in 13 people worldwide. [2] [3] [4] [5] [6] [7]
The first case of CurryâJones 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 CurryâJones syndrome. [9]
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CurryâJones 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 |
CurryâJones syndrome is a rare genetic disorder characterized by congenital brain, osseous, cutaneous, ocular, and intestinal anomalies.
Individuals with this condition usually have the following symptoms: [1]
Some individuals may also display the following features:
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 of CurryâJones syndrome depends on an individual's symptom profile.
CurryâJones syndrome has been described in 13 people worldwide. [2] [3] [4] [5] [6] [7]
The first case of CurryâJones 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 CurryâJones syndrome. [9]
{{
cite book}}
: CS1 maint: multiple names: authors list (
link)