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]

• Developmental Delay

  With rare exceptions, motor developmental delay and reduced motor strength are common features in childhood, although muscle weakness typically improves during childhood [Giunta et al 2018a]. [ncbi.nlm.nih.gov]

• Osteopenia

  Fractures probably due to osteopenia/osteoporosis from immobility occurred in 3/23. Atlantoaxial subluxation/instability has been reported in three individuals [Dordoni et al 2016, Giunta et al 2018a, Castori et al 2019]. Eyes. [ncbi.nlm.nih.gov]

Treatment of Manifestations Table 4. [ncbi.nlm.nih.gov]

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 The pathomechanism of FKBP14-kEDS is only partially understood [Baumann et al 2012]. [ncbi.nlm.nih.gov]

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]