Curry-Jones Syndrome (CRJS)

Alias:
Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development
Corpus Callosum Agenesis-Polysyndactyly Syndrome
Curry-Jones Syndrome, Somatic Mosaic
Crjs
Winter Shortland Temple Syndrome
Curry Jones Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Curry-Jones Syndrome, also known as craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development, is related to fibromatosis, gingival, with progressive deafness and polydactyly, preaxial iv. An important gene associated with Curry-Jones Syndrome is SMO (Smoothened, Frizzled Class Receptor). Affiliated tissues include skin and smooth muscle, and related phenotypes are hypertelorism and hypopigmented skin patches
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
<1/1000000
1
13
6

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
No Data Found!
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