GMS syndrome

Orpha code: 2090OMIM code: 138770

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.

Disease data
Classification

Malformation syndrome

Synonyms
Goniodysgenesis-intellectual disability-short stature syndrome
Goniodysgeneza - niepełnosprawność intelektualna - niski wzrost
ORPHA code
2090
OMIM code
138770
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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