Congenital unilateral hypoplasia of depressor anguli oris

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 (see this term) 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).



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0000178 Abnormality of lower lip Very frequent (99-80%)
HP:0011333 Asymmetric crying face Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000076 Vesicoureteral reflux Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000411 Protruding ear Frequent (79-30%)
HP:0000776 Congenital diaphragmatic hernia Frequent (79-30%)
HP:0001276 Hypertonia Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0002093 Respiratory insufficiency Frequent (79-30%)
HP:0002120 Cerebral cortical atrophy Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0005562 Multiple renal cysts Frequent (79-30%)
HP:0008678 Renal hypoplasia/aplasia Frequent (79-30%)
HP:0009804 Reduced number of teeth Frequent (79-30%)
HP:0001263 Global developmental delay Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0001636 Tetralogy of Fallot Occasional (29-5%)
HP:0001679 Abnormal aortic morphology Occasional (29-5%)
HP:0002086 Abnormality of the respiratory system Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0003272 Abnormality of the hip bone Occasional (29-5%)
HP:0003422 Vertebral segmentation defect Occasional (29-5%)
HP:0004414 Abnormality of the pulmonary artery Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID