| Main clinical features
|
congenital mitral regurgitation, congenital perceptive deafness due to stapes footplate fixation, fusion of cervical vertebrae and of carpal and tarsal bones, striking freckling of the face and iris, and short stature
postnatal growth retardation, facial dysmorphism, congenital cardiac defects (septal defect and nonprogressive multiple valve dysplasia), shortened extremities, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosiscarpal/tarsal and extensive vertebral synostosis, delayed carpal bone age, deafness, and inner ear malformation |