radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Findings
No curated finding names radioulnar synostosis with amegakaryocytic thrombocytopenia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.
Definition from the Mondo Disease Ontology (MONDO:0014758), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Hydrocele testisHPOHP:0000034
- 1 of 1 reported patient · Male
- Radioulnar synostosisHPOHP:0002974
- 3 of 3 reported patients
- AnemiaHPOHP:0001903
- 2 of 3 reported patients · Congenital onset
- Congenital thrombocytopeniaHPOHP:0001905
- 2 of 3 reported patients · Congenital onset
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 3 reported patients
- Cleft palateHPOHP:0000175
- 1 of 3 reported patients
- Decreased total neutrophil count
Show the remaining 2
- Limited pronation/supination of forearmHPOHP:0006394
- ThrombocytopeniaHPOHP:0001873
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.
- MECOMHGNC:3498
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2016
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- Also called
- MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeradio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOMradioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2radioulnar synostosis with amegakaryocytic thrombocytopenia type 2RUSAT2