Distinctive facial features:
• Downward-slanting palpebral fissures
• Midface hypoplasia: hypoplasia/aplasia of the zygomatic arch and malar hypoplasia
• Micrognathia, retrognathia and mandibular hypoplasia
• External ear abnormalities
• Lower eyelid abnormalities
Typically, intellect is normal; speech delay can occur.
Fertility is normal.
Rare other malformations: Cardiac, rachis or renal malformations have been described.
TCOF1