ORPHA:2399
Nasopalpebral lipoma-coloboma syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nasopalpebral lipoma-coloboma syndrome | |
| fr | Syndrome de lipomes naso-palpébraux-colobome | |
| de | Nasopalpebrales Lipom-Kolobom-Syndrom | |
| es | Síndrome de lipoma nasopalpebral-coloboma | |
| it | Sindrome lipoma nasopalpebrale-coloboma | |
| nl | Nasopalpebraal lipoom - coloboom-syndroom | |
| pt | Síndrome de lipoma naso-palpebral-coloboma | |
| pl | Zespół tłuszczaka nosowo-powiekowego i szczeliny oka | |
| cs | Syndrom zahrnující nazopalpebrální lipom, kolobom a telekantus | |
| uk | Синдром назопалпебральної ліпоми-колобоми | |
| zh | 鼻睑脂肪瘤-眼缺损综合征 | |
| tr | Nazopalpebral lipom-kolobom sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 167730 | E | validated | |
| ICD-10 | Q10.3 | NTBT | attributed | validated |
| ICD-11 | LD21.Y | NTBT | index | validated |
| MONDO | 0008182 | E | validated | |
| MeSH | C538338 | E | validated | |
| UMLS | C1868660 | E | validated | |
| GARD | 3927 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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:98566Syndromic eyelid coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 27139419[PMID]_ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
30 annotations · validated 2017-10-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000589 | Coloboma | Diagnostic criterion |
| HP:0001012 | Multiple lipomas | Diagnostic criterion |
| HP:0000506 | Telecanthus | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0000337 | Broad forehead | |
| HP:0000518 | Cataract | |
| HP:0030953 | Conjunctival hyperemia | |
| HP:0007957 | Corneal opacity | |
| HP:0031111 | Cutaneous hamartoma | |
| HP:0000437 | Depressed nasal tip | |
| HP:0000268 | Dolichocephaly | |
| HP:0009926 | Epiphora | |
| HP:0000577 | Exotropia | |
| HP:0030670 | Hamartoma of the orbital region | |
| HP:0000316 | Hypertelorism | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0007820 | Lacrimal punctal atresia | |
| HP:0040164 | Lipomas of upper eyelids | |
| HP:0000369 | Low-set ears | |
| HP:0000568 | Microphthalmia | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0008850 | Severe postnatal growth retardation | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000445 | Wide nose | |
| HP:0000349 | Widow's peak | |
| Occasional (29-5%) | ||
| HP:3000022 | Abnormality of cartilage of external ear | |
| HP:0007633 | Bilateral microphthalmos | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000378 | Cupped ear | |
| Excluded (0%) | ||
| HP:0002011 | Morphological central nervous system abnormality | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 27139419[PMID]_23636874[PMID]_21836344[PMID]_11115270[PMID]_1756608[PMID]_7091184[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2399
- This record as JSON: /data/d/2399.json