pectus excavatum-macrocephaly-dysplastic nails syndrome

Rare Disease

MONDO:0010883

Also Known As

Zori-Stalker-Williams syndromeZori Stalker Williams syndromefamilial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nailspectus excavatum, macrocephaly and dysplastic nailspectus excavatum, macrocephaly, short stature, and dysplastic nails

Definition

Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.