Meester-Loeys syndrome
MONDO:0010515Mondo
Findings
No curated finding names Meester-Loeys syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Features
33 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.
- Relative macrocephalyHPOHP:0004482
- 3 of 3 reported patients
- VentriculomegalyHPOHP:0002119
- 3 of 3 reported patients
- Malar flatteningHPOHP:0000272
- 7 of 8 reported patients
- Aortic root aneurysmHPOHP:0002616
- 13 of 15 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 6 of 7 reported patients
- Joint hypermobilityHPOHP:0001382
- 8 of 10 reported patients
- HypertelorismHPOHP:0000316
- 8 of 11 reported patients
- Frontal bossingHPOHP:0002007
- 5 of 7 reported patients
- Gingival overgrowthHPOHP:0000212
- 2 of 3 reported patients
- HypertrichosisHPOHP:0000998
- 2 of 3 reported patients
- ProptosisHPOHP:0000520
- 5 of 8 reported patients
- DolichocephalyHPOHP:0000268
- 4 of 7 reported patients
Show the remaining 21
- Joint contractureHPOHP:0034392
- 4 of 7 reported patients
- Pes planusHPOHP:0001763
- 5 of 9 reported patients
- Broad distal phalanx of fingerHPOHP:0009836
- 3 of 6 reported patients
- Short statureHPOHP:0004322
- 5 of 11 reported patients
- Striae distensaeHPOHP:0001065
- 4 of 9 reported patients
- BrachydactylyHPOHP:0001156
- 3 of 7 reported patients
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.
- BGNHGNC:1044
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · G2P · X-linked · 2025
- Strong · ClinGen · X-linked · 2026
- Moderate · Ambry Genetics · X-linked · 2018
- Moderate · Ambry Genetics · X-linked · 2025
- Limited · Illumina · X-linked · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: Meester-Loeys syndrome
- Also called
- Meester-Loeys syndrome; MRLSMRLS