Ehlers–Danlos Syndrome : an underdiagnosed condition
• Failure to thrive is a common clinical presentation that is usually discovered during routine child visit at primary care clinic. • The pitfall arises when there are overlapping causes in which nutritional and psychosocial issues mask the suspicion of medical cause. • A well-looking child with...
| Main Authors: | , , |
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| Format: | Conference or Workshop Item |
| Language: | English English |
| Published: |
2019
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| Subjects: | |
| Online Access: | http://irep.iium.edu.my/73924/ http://irep.iium.edu.my/73924/1/Dr%20Mohammad%20July%202019.pdf http://irep.iium.edu.my/73924/6/Aug%20Dr.%20Mohd%20POSTER%20EDS.pdf |
| Summary: | • Failure to thrive is a common clinical presentation that is usually discovered during routine child visit at primary care clinic.
• The pitfall arises when there are overlapping causes in which nutritional and psychosocial issues mask the suspicion of medical cause.
• A well-looking child with failure to thrive is considered as normal variants of growth or having nutritional deficiency without proper assessment.
• Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of hereditary connective tissue disorders (HCTD) that involves a genetic defect in collagen and connective tissue synthesis and structure5. It is generally characterised by joint hypermobility, skin hyperextensibility and tissue fragility.
• Despite being a genetic disorder either by autosomal dominant or recessive, the established diagnosis is usually delayed during adolescent or adulthood.
• The International EDS Consortium 2017 proposed a revised EDS classification which recognized 13 subtypes with distinct set of clinical criteria. |
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