[4] There are also oral and respiratory anomalies present within the condition, cleft palates and choanal atresia aren't uncommon findings.

[4] Occasional findings include short stature, heart and thumb defects, esophageal atresia, and tracheoesophageal fistula.

[10] This disorder was discovered in the year 2000, when Guion-Almeida et al., described 2 Brazilian brothers with growth delays, intellectual disabilities, trigonocephaly, microcephaly, preauricular tags, and cleft palate.

They did a follow-up on these patients and 2 new ones: Brazilian siblings of the opposite sex (male and female), they found additional findings they had failed to describe before: zygomatic arc hypoplasia, and micrognathia.

They had severe speech/language delay, they found this to be part of a brand new autosomal recessive mandibulofacial dysostosis entity.