GMS syndrome describes an extremely rare genetic condition characterized by a specific combination of physical and intellectual features.
Understanding GMS Syndrome
GMS syndrome, also known as GMS disease, is a very rare syndrome. The syndrome was first described in 1992 and, to date, there has been no further documentation of the syndrome in medical literature. GMS is defined by these key characteristics:
- Goniodysgenesis: Abnormal development of the anterior chamber angle of the eye, which can lead to glaucoma.
- Intellectual Disability: Cognitive impairment.
- Short Stature: Below-average height.
- Microcephaly: Abnormally small head size.
- Short Nose: Nose shorter than typical dimensions.
- Small Hands and Ears: Smaller than average size of hands and ears.
Because of the limited number of cases, little is known about the specific genetic cause, long-term prognosis, or optimal management strategies for GMS syndrome.
