Congenital unilateral hypoplasia of depressor anguli oris

Summary

Congenital unilateral hypoplasia of depressor anguli oris (MONDO:0007443) is a disease. A subtype of 22q11.2 deletion syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 26

Clinical features

Signs & symptoms

Clinical features (HPO)

26 HPO clinical features (Orphanet curated; top 26 by frequency):

HPO ID	Term	Frequency
HP:0000178	Abnormality of lower lip	Very frequent (80-99%)
HP:0011333	Asymmetric crying face	Very frequent (80-99%)
HP:0000028	Cryptorchidism	Frequent (30-79%)
HP:0000076	Vesicoureteral reflux	Frequent (30-79%)
HP:0000175	Cleft palate	Frequent (30-79%)
HP:0000252	Microcephaly	Frequent (30-79%)
HP:0000347	Micrognathia	Frequent (30-79%)
HP:0000411	Protruding ear	Frequent (30-79%)
HP:0000776	Congenital diaphragmatic hernia	Frequent (30-79%)
HP:0001276	Hypertonia	Frequent (30-79%)
HP:0001387	Joint stiffness	Frequent (30-79%)
HP:0002093	Respiratory insufficiency	Frequent (30-79%)
HP:0002120	Cerebral cortical atrophy	Frequent (30-79%)
HP:0004322	Short stature	Frequent (30-79%)
HP:0005562	Multiple renal cysts	Frequent (30-79%)
HP:0008678	Renal hypoplasia/aplasia	Frequent (30-79%)
HP:0009804	Tooth agenesis	Frequent (30-79%)
HP:0001263	Global developmental delay	Occasional (5-29%)
HP:0001629	Ventricular septal defect	Occasional (5-29%)
HP:0001636	Tetralogy of Fallot	Occasional (5-29%)
HP:0001679	Abnormal aortic morphology	Occasional (5-29%)
HP:0002086	Abnormality of the respiratory system	Occasional (5-29%)
HP:0003272	Abnormality of the hip bone	Occasional (5-29%)
HP:0003422	Vertebral segmentation defect	Occasional (5-29%)
HP:0004414	Abnormality of the pulmonary artery	Occasional (5-29%)
HP:0030680	Abnormal cardiovascular system morphology	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital unilateral hypoplasia of depressor anguli oris
Mondo ID	MONDO:0007443
OMIM	125520
Orphanet	1166
SNOMED CT	51409009
UMLS	C0431406
MedGen	140911
GARD	0016557
Is cancer (heuristic)	no

Also known as: isolated asymmetric crying facies

Disease family

This is a subtype of 22q11.2 deletion syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › 22q11.2 deletion syndrome › congenital unilateral hypoplasia of depressor anguli oris

Related subtypes (3): DiGeorge syndrome, velocardiofacial syndrome, chromosome 22q11.2 deletion syndrome, distal

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.