Presentation
Sensorineural hearing impairment is the most frequent, present in about half of affected individuals; conductive hearing loss is present in up to one quarter. [ncbi.nlm.nih.gov]
Entire Body System
- Disability
Since many adults with disabilities have not undergone advanced genetic testing, it is likely that adults with this condition are underrecognized and underreported. [ncbi.nlm.nih.gov]
Eyes
- Bluish Sclerae
Occasional features underlying systemic connective tissue involvement include aortic rupture and arterial dissection, subdural hygroma, insufficiency of cardiac valves, bluish sclerae, bladder diverticula, inguinal or umbilical herniae, and premature [ncbi.nlm.nih.gov]
- Blue Sclera
Blue sclerae are present in about one third of affected individuals. Ears. Hearing impairment can manifest at birth, in early infancy, or even later in life [Giunta et al 2018a]. [ncbi.nlm.nih.gov]
Treatment
Treatment of Manifestations Table 4. [ncbi.nlm.nih.gov]
Prognosis
Prognosis. It is unknown if life span in individuals with FKBP14-kEDS is reduced. One reported individual is alive at age 53 years [Giunta et al 2018a], demonstrating that survival into adulthood is possible. [ncbi.nlm.nih.gov]
Pathophysiology
Pathophysiology The pathomechanism of FKBP14-kEDS is only partially understood [Baumann et al 2012]. [ncbi.nlm.nih.gov]
Prevention
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet. 2010;376:1476–84. [ncbi.nlm.nih.gov]