Otofaciocervical syndrome

Otofaciocervical syndrome
Other namesFars Chlupackova syndrome
SpecialtyMedical genetics
CausesGenetic mutation
Risk factorsDepends on the type
PreventionNone
PrognosisBad, nearing medium
FrequencyVery rare, a total of 24 cases (from both types combined) have been reported worldwide.
Deaths-

Otofaciocervical syndrome, also known as Fara Chlupackova syndrome, 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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.