Facial anomalies are frequent (severe microor
retrognathia, ptosis, telecanthus, microcephaly, spoonlike shape of the tongue (lingua cochlearis), cleft hard palate,
ankyloglossia, deafness), normal intelligence, cardiac defect can be
present, muscle weakness, myopathy, multiple orthopedic modifications
(scoliosis, symphalangy, webbed neck, webbing of joints, talipes
varus/valgus, syndactyly of fingers, short stature, vertebral segmentation
abnormality and fusion), genitourinary tract malformation, and occasional diaphragmatic
hernia. Joint contractures and rocker-bottom feet are frequently seen.