TCOF1

Clinical Characteristics

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.