Congenital unilateral hypoplasia of depressor anguli oris

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Isolated asymmetric crying facies

A rare isolated congenital head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular musculoskeletal cervicofacial respiratory genitourinary and endocrine anomalies.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

Newly diagnosed with
Congenital unilateral hypoplasia of depressor anguli oris?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.