Global InformationOtofaciocervical syndrome information
| Otofaciocervical syndrome | |
|---|---|
| Other names | Fars Chlupackova syndrome |
 | |
| Specialty | Medical genetics |
| Causes | Genetic mutation |
| Risk factors | Depends on the type |
| Prevention | None |
| Prognosis | Bad, nearing medium |
| Frequency | Very rare, a total of 24 cases (from both types combined) have been reported worldwide. |
| Deaths | - |
Otofaciocervical syndrome, also known as Fara Chlupackova syndrome,[1] are a small group of rare developmental disorders of genetic origin which are characterized by facial dysmorphisms, long neck, preauricular and/or branchial pits, cervical muscle hypoplasia, hearing loss, and mild intellectual disabilities. Additional findings include vertebral anomalies and short stature.[2]
- ^ "Fara Chlupackova syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-04.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Fara Chlupackova syndrome". www.orpha.net. Retrieved 2022-06-04.
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