/GMS syndrome

GMS syndrome

Rare Disease

MONDO:0007679

Also Known As

GMS syndromeGoniodysgenesis-intellectual disability-short stature syndromeGoniodysgenesis--intellectual disability--short stature syndromeGoniodysgenesis--mental retardation--short stature syndrome

Definition

GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.