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Table 1 Clinical Features of FOP patients

From: Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis

  Classic FOP FOP-plus FOP variants
Patient number 60cases 46 70 7 42 54
ACVR1 mutation
 -Coden change R206H (45 cases) or not complete (15 cases) R206H R206H R258S R206H C306D
 -Nucleotide change (cDNA position) c.617G > A (45 cases) or not complete(15 cases) c.617G >  A c.617G > A c.744G > C c.617G > A c.1067G > A
Gender M&F (26/34) M M M M F
Age of onset (years) 0–13 18 5 6 2 2.5
Typical FOP features
 -Congenital malformations of Great toes Y Y Y N Y Y
 -progressive HO Y Y Y Y Y Y
 -onset site Scalp(45%); Neck(20%); Back(15%); Shoulder(6.7%); Hip (5%); Others (8.3%) Shoulder Back Knee Scalp Shoulder
Other typical FOP features
 -Thumb malformations 1.7% Y Y Y Y N
 -Knee osteochondromas 51.7% N N Y N N
 - Scoliosis 56.7% N N Y N Y
 -Conductive hearing impairment 5% N N N N N
Atypical FOP features features N Childhood glaucoma Cryptorchidism Minimal changes in great toes No changes in great toes Minimal changes in great toes