GARD Rare Disease Listings

Rare Disease Database

Rare Disease Database GARD Rare Diseases Database
GARD Summary
ZAP-70 deficiency

Also known as: Zeta-associated-protein 70 deficiency Severe combined immunodeficiency due to ZAP70 deficiency

GARD Summary
Zechi Ceide syndrome

Also known as: Occipital atretic cephalocele, unusual facies and large feet

GARD Summary
Zellweger syndrome

Also known as: Cerebrohepatorenal syndrome CHR ZWS ZS Zellweger leukodystrophy

GARD Summary
Zerres Rietschel Majewski syndrome

Also known as: Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation

GARD Summary
Zlotogora syndrome

Also known as: Cleft lip/palate-ectodermal dysplasia syndrome Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly Zlotogora-Ogur syndrome CLPED1 Cleft lip/palate-syndactyly-pili torti syndrome Cleft lip/palate-syndactyly-pili torti Syndactyly-ectodermal dysplasia-cleft/lip palate Zlotogora-Zilberman-Tenenbaum syndrome

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

GARD Summary
ZTTK syndrome

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

GARD Summary
Zuska’s disease

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