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congenital unilateral hypoplasia of depressor anguli oris - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital unilateral hypoplasia of depressor anguli oris

MONDO:0007443

Also known as:isolated asymmetric crying faciesCayler cardiofacial syndromeasymmetric crying facies

Overview

Congenital unilateral hypoplasia of depressor anguli oris is a congenital 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. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).

GeneticsAutosomal dominant

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Ventricular septal defect, Tetralogy of Fallot, Asymmetric crying face, and Patent ductus arteriosus.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Ventricular septal defect
Head and neck

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for congenital unilateral hypoplasia of depressor anguli oris.

5 publications have been identified in PubMed for congenital unilateral hypoplasia of depressor anguli oris. Research spans Case Report / Case Series (100%).

Recent Publications

Vasudeva A (2025). [PMID: 40034619](https://pubmed.ncbi.nlm.nih.gov/40034619/). *Cureus*. [Case Report / Case Series]
Mazhari MYA (2025). [PMID: 40828504](https://pubmed.ncbi.nlm.nih.gov/40828504/). *Indian journal of pediatrics*. [Case Report / Case Series]
Arora GK (2025). [PMID: 40070734](https://pubmed.ncbi.nlm.nih.gov/40070734/). *Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India*. [Case Report / Case Series]
Delgado J (2024). [PMID: 39791075](https://pubmed.ncbi.nlm.nih.gov/39791075/). *Cureus*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:125520

Orphanet

European rare disease database

Orphanet:1166

GARD

Genetic and Rare Diseases Info Center

GARD:16557

Questions for Your Care Team

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congenital unilateral hypoplasia of depressor anguli oris

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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