Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome | |
| fr | Syndrome d'anomalies auriculaires-fente labiale ou labiopalatine-anomalies oculaires | |
| de | Ohranomalien-Lippenspalte mit oder ohne Gaumenspalte-Augenanomalien-Syndrom | |
| es | Síndrome de anomalías auriculares-fisura labial con o sin paladar hendido-anomalías oculares | |
| it | Sindrome anomalie auricolari-labioschisi con o senza palatoschisi-anomalie oculari | |
| nl | Auriculaire abnormaliteiten - gespleten lip met of zonder gespleten verhemelte - oculaire abnormaliteiten | |
| pt | Síndrome de anomalias auriculares-fenda labial com/sem fenda palatina-anomalias oculares | |
| pl | Wady uszu - rozszczep wargi z lub bez rozszczepu podniebienia - wady oczu | |
| cs | Syndrom zahrnující aurikulární abnormality, rozštěp rtu s nebo bez rozštěpu patra a okulární abnormality | |
| uk | Синдром аномалії вух-розщілини губи з або без розщілиною піднебіння-аномалії очей | |
| zh | 耳廓畸形-唇裂伴或不伴腭裂-眼异常综合征 | |
| tr | Kulak anormallikleri-yarık damakla birlikte olan veya olmayan yarık dudak-oküler anormallikler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0019178 | E | validated | |
| UMLS | C4518478 | 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 (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:71270OBSOLETE: Auriculoocular anomalies-cleft lip syndrome referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 16317305[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16317305[PMID] |
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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011340 | Incomplete cleft of the upper lip | |
| HP:0000202 | Orofacial cleft | |
| Frequent (79-30%) | ||
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000891 | Cervical ribs | |
| HP:0002002 | Deep philtrum | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0007894 | Hypopigmentation of the fundus | |
| HP:0010880 | Increased nuchal translucency | |
| HP:0002566 | Intestinal malrotation | |
| HP:0002808 | Kyphosis | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000767 | Pectus excavatum | |
| HP:0100277 | Periauricular skin pits | |
| HP:0001357 | Plagiocephaly | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000572 | Visual loss | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/77300
- This record as JSON: /data/d/77300.json