Prenatal onset growth deficiency with failure to
thrive and short stature. Microcephaly with upward slant of palpebral
fissures and hypertelorism. Seizure activity has been reported in 20% of patients
without abnormal brain function (MRI and EEG). Low nasal bridge, short neck. Small hands
with clinodactyly of the fifth finger. Forty percent of patients are known to have congenital heart defect: ventricular septal
defect, conotruncal or patent ductus arteriosus. Premature loss of deciduous teeth. Moderate to severe
mental retardation. Occasional findings include coloboma of the iris, myopia,
micropthalmus, and optic nerve hypoplasia (15%). Macroglossia, cleft palate,
micrognathia, low-set ears, club feet, multiple joint dislocation, renal dysplasia, and
horseshoe kidney (10%). Usually associated with equinovarus, overlapping toes, multiple joint
dislocations (shoulder, elbow, hip, wrist, and finger), and radioulnar synostosis.