GMS syndrome
MONDO:0007679Mondo
Findings
No curated finding names GMS syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0007679), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Rieger anomalyHPOHP:0000558
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- Preauricular pitHPOHP:0004467
- Frequent (30% to 79% of cases)
- Premature birthHPOHP:0001622
- Frequent (30% to 79% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Frequent (30% to 79% of cases)
Show the remaining 1
- Tricuspid regurgitationHPOHP:0005180
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: GMS syndrome
- Also called
- Goniodysgenesis-intellectual disability-short stature syndrome