Information on Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Basic details
Name: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | Acronym:
Alt. names:
Gene: MECOM | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2015
Last updated on: 2023-02-28 16:41:18 by
Description
The condition involves bone marrow failure, and awareness may allow prompt management of hematologic complications as well as complications related to susceptibility to infections; HSCT has been described. Refs. PMIDs: 20091385; 26581901
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Radioulnar synostosis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Anemia |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 3 | Congenital thrombocytopenia |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 4 | Sensorineural hearing impairment |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 5 | Cleft palate |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 6 | Hydrocele testis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Hydrops fetalis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 8 | Intellectual disability, mild |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 9 | Neutropenia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 10 | Overlapping fingers |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 11 | Short middle phalanx of the 4th finger |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 12 | Hepatosplenomegaly |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.