Proboscis lateralis
Synonyms: Congenital tubular nose
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proboscis lateralis | Congenital tubular nose |
| fr | Proboscis latéral | Nez tubulaire congénital |
| de | Proboscis lateralis | |
| es | Proboscis lateralis | Nariz tubular congénita |
| it | Proboscide laterale | |
| nl | Proboscis lateralis | Congenitale buisvormige neus · Congenitale tubulaire neus |
| pt | Proboscis lateral | |
| pl | Proboscis lateralis | Wrodzony nos rurkowaty |
| cs | Proboscis lateralis | Vrozený tubulární nos |
| uk | Бічний хоботок (Proboscis lateralis) | Вроджений трубчастий ніс |
| zh | 鼻侧缘畸形 | 先天性管状鼻 |
| tr | Lateral probiskus | Doğumsal tübüler burun |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q30.8 | NTBT | attributed | validated |
| ICD-11 | LA70.Y | NTBT | index | validated |
| MONDO | 0015390 | E | validated | |
| UMLS | C4274985 | E | validated | |
| GARD | 19947 | 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:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
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 | — | Europe | 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
49 annotations · validated 2021-11-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000245 | Abnormality of the paranasal sinuses | |
| HP:0012806 | Proboscis | |
| Frequent (79-30%) | ||
| HP:0012372 | Abnormal eye morphology | |
| HP:0011821 | Abnormality of facial skeleton | |
| HP:0430023 | Abnormality of the maxillary sinus | |
| HP:0032039 | Abnormality of the ocular adnexa | |
| HP:0000625 | Eyelid coloboma | |
| HP:0002011 | Morphological central nervous system abnormality | |
| HP:0009932 | Single naris | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0040296 | Abnormal location of the eyebrow | |
| HP:3000030 | Abnormal morphology of bony orbit of skull | |
| HP:0000614 | Abnormal nasolacrimal system morphology | |
| HP:0430005 | Abnormality of ethmoid bone | |
| HP:0009117 | Aplasia/Hypoplasia of the maxilla | |
| HP:0000337 | Broad forehead | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0007957 | Corneal opacity | |
| HP:0003241 | External genital hypoplasia | |
| HP:0000218 | High palate | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000316 | Hypertelorism | |
| HP:0000612 | Iris coloboma | |
| HP:0000343 | Long philtrum | |
| HP:0000256 | Macrocephaly | |
| HP:0000579 | Nasolacrimal duct obstruction | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000202 | Orofacial cleft | |
| Very rare (<4-1%) | ||
| HP:0012738 | Agenesis of canine | |
| HP:0000528 | Anophthalmia | |
| HP:0000518 | Cataract | |
| HP:0000453 | Choanal atresia | |
| HP:0009914 | Cyclopia | |
| HP:0005580 | Duplication of renal pelvis | |
| HP:0000286 | Epicanthus | |
| HP:0000482 | Microcornea | |
| HP:0000568 | Microphthalmia | |
| HP:0000588 | Optic disc coloboma | |
| HP:0001144 | Orbital cyst | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000520 | Proptosis | |
| HP:0000508 | Ptosis | |
| HP:0000486 | Strabismus | |
| HP:0007946 | Unilateral narrow palpebral fissure | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0012300 | Ureteral agenesis | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 34395913[PMID]_31420283[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141099
- This record as JSON: /data/d/141099.json