Weill-Marchesani syndrome 2, dominant
Findings
No curated finding names Weill-Marchesani syndrome 2, dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.
Definition from the Mondo Disease Ontology (MONDO:0012013), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
25 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.
- Ascending aortic dissectionHPOHP:0004933
- 1 of 1 reported patient
- AstigmatismHPOHP:0000483
- 1 of 1 reported patient
- Congestive heart failureHPOHP:0001635
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Depressed glabellaHPOHP:0011222
- 1 of 1 reported patient
- Elbow flexion contractureHPOHP:0002987
- 1 of 1 reported patient
- Flexion contracture of toeHPOHP:0005830
Show the remaining 13
- Protuberant abdomenHPOHP:0001538
- 1 of 1 reported patient
- Short fingerHPOHP:0009381
- 1 of 1 reported patient
- Short metacarpalHPOHP:0010049
- 1 of 1 reported patient
- Short metatarsalHPOHP:0010743
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Striae distensaeHPOHP:0001065
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FBN1HGNC:3603
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · G2P · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
8 names
Resolves to: Weill-Marchesani syndrome 2, dominant
- Also called
- GEMSSGEMSS syndromeglaucoma-lens ectopia-microspherophakia-stiffness-shortness syndromeglaucoma, ectopia, microspherophakia, Stiff joints and short stature syndromeWeill-Marchesani syndrome 2Weill-Marchesani syndrome type 2Weill-Marchesani syndrome, autosomal dominantWMS2