Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Synonyms: Macroblepharon-ectropion-hypertelorism-macrostomia syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anterverted nares, abnormal dentition and capillary hemangioma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome | Macroblepharon-ectropion-hypertelorism-macrostomia syndrome |
| fr | Syndrome de dysostose mandibulo-faciale-macroblépharon-macrostomie | Syndrome de macroblépharon-ectropion-hypertélorisme-macrostomie |
| de | Mandibulofaziale Dysostose-Makroblepharon-Makrostomie-Syndrom | Makroblepharon-Ektropion-Hypertelorismus-Makrostomie-Syndrom |
| es | Síndrome de disostosis mandibulofacial-macrobléfaron-macrostomía | Síndrome de macrobléfaron-ectropión-hipertelorismo-macrostomía |
| it | Sindrome da disostosi mandibolo-facciale, macroblefaro e macrostomia | Sindrome macroblefaro-ectropion-ipertelorismo-macrostomia |
| nl | Mandibulofaciale dysostose - macroblefaron - macrostomie-syndroom | Macroblefaron - ectropion - hypertelorisme - macrostomie-syndroom |
| pt | Síndrome de disostose mandibulofacial-macrobléfaro-macrostomia | Síndrome de macroblefaro-ectropion-hipertelorismo-macristomia |
| pl | Dyzostoza żuchwowo-twarzowa - macroblepharon - makrostomia | Zespół macroblepharon - ektropion - hiperteloryzm - makrostomia |
| cs | Syndrom zahrnující mandibulofaciální dysostózu, makroblefaron a makrostomii | Syndrom zahrnující makroblefaron, ektropion, hypertelorismus a makrostomii |
| uk | Синдром мандибулофаціального дизостозу-макроблефарону-макростомії | Синдром макроблефарон-ектропіон-гіпертелоризм-макростомія |
| zh | 下颌面骨发育不全-巨睑-巨口畸形综合征 | 巨睑-睑外翻-眼距过宽-巨口综合征 |
| tr | Mandibulofasiyal dizostoz-makroblefaron-makrostomi sendromu | Makroblefaron-ektropiyon-hipertelorizm-makrostomi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602562 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0011255 | E | validated | |
| UMLS | C4750958 | 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 (4):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:98570Congenital ectropion
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:155899Mandibulofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
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 cases | Worldwide | Case(s) | Validated | 9018413[PMID]_23448909[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9018413[PMID]_23448909[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/357158
- This record as JSON: /data/d/357158.json