Congenital unilateral hypoplasia of depressor anguli oris
Synonyms: Isolated asymmetric crying facies
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital unilateral hypoplasia of depressor anguli oris | Isolated asymmetric crying facies |
| fr | Hypoplasie unilatérale congénitale du muscle abaisseur de l'angle de la bouche | Asymétrie faciale des pleurs isolée · Hypoplasie unilatérale congénitale du muscle triangulaire des lèvres |
| de | Kongenitale unilaterale Hypoplasie des M. depressor anguli oris | Isoliertes asymetrisches Schreigesicht |
| es | Hipoplasia unilateral congénita del músculo depresor del ángulo de la boca | Facies aislada asimétrica de aspecto lloroso |
| it | Ipoplasia unilaterale congenita del muscolo depressore dell'angolo della bocca | Faccia asimmetrica durante il pianto, forma isolata |
| nl | Congenitale unilaterale hypoplasie van depressor anguli oris | Geïsoleerd asymmetrisch 'crying facies' |
| pt | Hipoplasia do músculo depressor do ângulo da boca unilateral congénita | Assimetria facial com o choro |
| pl | Wrodzona jednostronna hipoplazja obniżacza kąta ust | Izolowana asymetryczna płacząca twarz |
| cs | Vrozená unilaterální hypoplázie depresoru anguli oris | Izolovaná asymetrie tváře |
| uk | Вроджена однобічна гіпоплазія депресора кута роту | Ізольоване асиметричне обличчя плачу |
| zh | 先天性单侧降口角肌发育不良 | 孤立型非对称性哭脸 |
| tr | Depresör anguli oris doğumsal unilateral hipoplazisi | İzole asimetrik ağlayan yüz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0007443 | E | validated | |
| MeSH | C535349 | E | validated | |
| UMLS | C0431406 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:155832Rare head and neck malformation
rare developmental anomalies during embryogenesis
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000178 | Abnormality of lower lip | |
| HP:0011333 | Asymmetric crying face | |
| Frequent (79-30%) | ||
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000175 | Cleft palate | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000028 | Cryptorchidism | |
| HP:0001276 | Hypertonia | |
| HP:0001387 | Joint stiffness | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0005562 | Multiple renal cysts | |
| HP:0000411 | Protruding ear | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0004322 | Short stature | |
| HP:0009804 | Tooth agenesis | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0004414 | Abnormality of the pulmonary artery | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0001263 | Global developmental delay | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001629 | Ventricular septal defect | |
| HP:0003422 | Vertebral segmentation defect | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1166
- This record as JSON: /data/d/1166.json