Syndromic orbital border hypoplasia
historical
Synonyms: Urrets-Zavalia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic orbital border hypoplasia | Urrets-Zavalia syndrome |
| fr | Hypoplasie syndromique du rebord orbitaire | Rebord orbitaire hypoplasique · Syndrome d'Urrets-Zavalia |
| de | Syndromale Hypoplasie der Orbitawand | Urrets-Zavalia-Syndrom |
| es | Hipoplasia sindrómica del borde orbitario | |
| it | Ipoplasia sindromica del bordo orbitario | Sindrome di Urrets-Zavalia |
| nl | Syndromale hypoplasie van oogkasrand | Syndroom van Urrets-Zavalia |
| pt | Hipoplasia sindromática do bordo orbital | |
| pl | Syndromiczna hipoplazja brzegu oczodołu | Zespół Urretsa i Zavalia |
| cs | Syndromická hypoplázie okraje orbity | Urrets-Zavaliův syndrom |
| uk | Синдром гіпоплазії орбітального краю | Синдром Уррета-Завалія |
| zh | 综合征性眼眶缘发育不全 | Urrets-Zavalia综合征 |
| tr | Sendromik orbital sınır hipoplazisi | Urrets-Zavalia sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 165600 | E | validated | |
| ICD-10 | Q10.7 | NTBT | attributed | validated |
| ICD-11 | LA14.2 | NTBT | attributed | validated |
| MONDO | 0008138 | E | validated | |
| UMLS | C4273912 | 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: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 | 2 families | Worldwide | Family(ies) | Validated | 14359373[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14359373[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98606
- This record as JSON: /data/d/98606.json