Chand Syndrome (CHANDS)

Alias:
Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
Chands
Baughman Syndrome
Curly Hair Ankyloblepharon Nail Dysplasia Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chand Syndrome, also known as curly hair, ankyloblepharon, nail dysplasia syndrome, is related to ankyloblepharon-ectodermal defects-cleft lip/palate and popliteal pterygium syndrome. An important gene associated with Chand Syndrome is RIPK4 (Receptor Interacting Serine/Threonine Kinase 4). Affiliated tissues include skin and tongue, and related phenotypes are nail dysplasia and ankyloblepharon
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
7
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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No data available

Related Drugs

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No data available

Disease Model

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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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