- Underdeveloped fingers and toes. Short and stubby digits may be absent.
- Short or absence of nails.
- Distinctive facial features including widely spaced protuberant eyes, broad nasal bridge, extra space between nose and upper lip, largemouth and small chin.
- Ears are low set and abnormally shaped.
- Clouding of the cornea and impaired vision.
- Distinctive facial features such as widely spaced eyes.
- Flat nose bridge.
- Small chin.
- Hole in the soft palate of the mouth.
- Nasal tip is thick.
- Impaired development of the respiratory, cardiovascular and renal systems.
- Abnormal genitalia.
- Facial characteristics.
- Typical stubby appearance of digits.
- Pulmonary hypoplasia.
- Cloudy corneas.
- Cleft palate.
- Brain malformation.
- Cardiovascular malformation.
- Renal cysts.
- Genital malformation.
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