Information on VEODS
Basic details
Name: Van Esch-O'Driscoll syndrome | Acronym: VEODS
Alt. names: X-linked reticulate pigmentary disorder
Gene: POLA1 | MOI: X-linked recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2019
Last updated on: 2023-02-28 16:41:18 by
Description
Males have been described with manifestations including recurrent respiratory infections and failure to thrive due to inflammatory gastroenteritis or colitis, and awareness, and awareness may allow preventative measures and early and aggressive treatments of infections. Refs. PMIDs: 16053905; 27019227; 31006512
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 | Congenital onset |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Global developmental delay |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Intellectual disability |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Microcephaly |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | short stature |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
| 6 | Hypogonadotrophic hypogonadism |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 7 | Muscular hypotonia |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 8 | Feeding difficulties |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 9 | Intrauterine growth retardation |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 10 | Retrognathia |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 11 | Sacral dimple |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 12 | Upslanted palpebral fissure |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 13 | Atrial septal defect |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 14 | Attention deficit hyperactivity disorder |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 15 | Autistic behavior |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 16 | Bifid uvula |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 17 | Cerebellar atrophy |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 18 | Cerebral atrophy |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 19 | Clinodactyly of the 5th finger |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 20 | Depressed nasal bridge |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 21 | Downturned corners of mouth |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 22 | Esophageal atresia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 23 | Esotropia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 24 | Shyness |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 25 | Impulsivity |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 26 | Long face |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 27 | Microtia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 28 | Stereotypy |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 29 | Protruding ear |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 30 | Pulmonary artery stenosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 31 | Pulmonary valve atresia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 32 | Recurrent infections |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 33 | Poor eye contact |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 34 | Scoliosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 35 | Seizures |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 36 | Shallow orbits |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 37 | Short middle phalanx of finger |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 38 | Short nose |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 39 | Short palpebral fissure |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 40 | Spasticity |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 41 | Spina bifida occulta |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 42 | Tracheoesophageal fistula |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 43 | Unilateral vocal cord paralysis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 44 | Ventricular septal defect |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 45 | Wide mouth |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
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.