GARD Rare Disease Listings

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GARD Summary

Zori Stalker Williams syndrome

Also known as: Pectus excavatum, macrocephaly and dysplastic nails Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails

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GARD Summary

ZTTK syndrome

Also known as: Zhu-Tokita-Takenouchi-Kim syndrome Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome

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GARD Summary

Zunich neuroectodermal syndrome

Also known as: CHIME syndrome

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GARD Summary

Zuska’s disease

Also known as: Lactation and squamous metaplasia of lactiferous ducts Lactiferous fistula Zuska disease

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