The syndrome consists of severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids and supernumerary nipples.

Additional features of the syndrome include downward-slanting palpebral fissures, malar hypoplasia, malformed ears, and a broad nasal ridge.

[citation needed] A mutation in this gene was reported by Morgan in 1910 in the fruit fly Drosophila melanogaster.

In the fly this mutation is characterized by wing anomalies, defective oogenesis, and malformed posterior legs.

Other types of axial cranial dysostosis included the Kelly, Reynolds, Arens (Tel Aviv), Rodríguez (Madrid), Richieri-Costa and Patterson-Stevenson-Fontaine forms.