Ascher syndrome
Synonyms: Blepharochalasis-double lip syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ascher syndrome | Blepharochalasis-double lip syndrome |
| fr | Syndrome d'Ascher | Syndrome de blépharochalasis-lèvre double |
| de | Ascher-Syndrom | Blepharochalasie-Doppelte Lippe-Syndrom |
| es | Síndrome de Ascher | Blefarocalasia - labio doble · Blefarocalasia-labio doble · Síndrome de blefarocalasia-labio doble |
| it | Sindrome di Ascher | Sindrome blefarocalasi-labbro doppio |
| nl | Syndroom van Ascher | Blefarochalasie - dubbele lip-syndroom |
| pt | Síndrome Ascher | |
| pl | Zespół Aschera | Zespół zwiotczenia powiek i podwójnej wargi |
| cs | Ascherův syndrom | Blepharochalasis-double lip syndrom · Syndrom zahrnující blefarochalázu a dvojitý ret |
| uk | Синдром Ашера | Синдром блефарохалазії - подвійної губи |
| zh | Ascher综合征 | 眼睑皮肤松弛-双唇综合征 |
| tr | Ascher sendromu | Blefarokalazis-çift dudak sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 109900 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD27.Y | NTBT | index | validated |
| MONDO | 0007198 | E | validated | |
| MeSH | C562742 | E | validated | |
| UMLS | C0339085 | E | validated | |
| GARD | 201 | 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 (5):
- 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:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98567Rare eyelid malposition disorder
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522528Rare genetic eyelid malposition disorder
rare genetic 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 | 50 cases | Worldwide | Case(s) | Validated | 8994475[PMID] | |
| 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.
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0000177 | Abnormality of upper lip | |
| HP:0000581 | Blepharophimosis | |
| HP:0012724 | Upper eyelid edema | |
| Frequent (79-30%) | ||
| HP:0000853 | Goiter | |
| HP:0000821 | Hypothyroidism | |
| HP:0000508 | Ptosis | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0004097 | Deviation of finger | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000445 | Wide nose | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1253
- This record as JSON: /data/d/1253.json