Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare ophtalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome | |
| fr | Syndrome de ptosis-mouvement oculaire supérieur limité-absence de point lacrymal | |
| de | Ptosis mit Bewegungseinschränkung des Auges und Fehlen des Tränenpünktchens | |
| es | Síndrome de ptosis-movimiento ocular limitado hacia arriba-ausencia del punto lagrimal | |
| it | Ptosi - limitazione dei movimenti oculari verso l'alto - assenza dei punti lacrimali | |
| nl | Ptosis - beperkte opwaartse oogbeweging - agenesie van punctum lacrimale-syndroom | |
| pt | Síndrome de ptose-limitação dos movimentos oculares superiores-ausência do ponto lacrimal | |
| pl | Ptoza - ograniczenie górnego ruchu gałek ocznych - brak otworów łzowych | |
| cs | Syndrom zahrnující ptózu, horní omezení očních pohybů a chybění slzných bodů | |
| uk | Синдром птозу-обмеження рухів верхньої повіки-відсутності слізного отвору | |
| zh | 上睑下垂-上眼运动受限-泪点缺乏综合征 | |
| tr | Pitoz-üst oküler hareket kısıtlılığı-lakrimal punktum sendromunun yokluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LA1Y | NTBT | attributed | validated |
| MONDO | 0016457 | E | validated | |
| UMLS | C4510249 | 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 (2):
- ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:519274Syndromic lacrimal system disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 19941420[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19941420[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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0000561 | Absent eyelashes | |
| HP:0001092 | Absent lacrimal punctum | |
| HP:0000463 | Anteverted nares | |
| HP:0004422 | Biparietal narrowing | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000343 | Long philtrum | |
| HP:0000508 | Ptosis | |
| HP:0000506 | Telecanthus | |
| HP:0000574 | Thick eyebrow | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000308 | Microretrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000340 | Sloping forehead | |
| HP:0012471 | Thick vermilion border | |
| HP:0005180 | Tricuspid regurgitation | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228396
- This record as JSON: /data/d/228396.json