ORPHA:920
Ablepharon macrostomia syndrome
Synonyms: AMS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital malformation characterized by absent or severely underdeveloped eyelids (ablepharon), a lateral enlargement of the mouth (macrostomia), malformed external ears, and redundant skin folds.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ablepharon macrostomia syndrome | AMS |
| fr | Syndrome d'ablépharie-macrostomie | = en |
| de | Ablepharon-Makrostomie-Syndrom | = en |
| es | Síndrome de abléfaron-macrostomía | |
| it | Sindrome ablefaron-macrostomia | = en |
| nl | Ablefaron - macrostomie-syndroom | AMS · Ablepharon - macrostomie-syndroom |
| pt | Síndrome de abléfaro-macrostomia | MAS |
| pl | Zespół braku/niedorozwoju powiek i makrostomii | = en |
| cs | Syndrom zahrnující ablefarii a makrostomii | Syndrom zahrnující ablefaron a makrostomii · Syndrom zahrnující ablepharon a makrostomii |
| uk | Синдром аблефарона макростомії | |
| zh | 无睑-巨口综合征 | |
| tr | Ablefaron makrostomi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200110 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008693 | E | validated | |
| MeSH | C535557 | E | validated | |
| UMLS | C1860224 | E | validated | |
| GARD | 3 | E | validated | |
| MedDRA | 10083860 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:98563Microblepharon-ablephara syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TWIST2 | Disease-causing germline mutation(s) in | Assessed | HGNC:20670 | ENSG00000233608 | 607556 | 2q37.3 | twist family bHLH transcription factor 2 | 26119818[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 39792429[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27196381[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.
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HPO phenotypes
39 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011224 | Ablepharon | |
| HP:0002223 | Absent eyebrow | |
| HP:0000561 | Absent eyelashes | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002213 | Fine hair | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0008551 | Microtia | |
| HP:0001582 | Redundant skin | |
| HP:0008070 | Sparse hair | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0000055 | Abnormality of female external genitalia | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000463 | Anteverted nares | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0003187 | Breast hypoplasia | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0007957 | Corneal opacity | |
| HP:0001126 | Cryptophthalmos | |
| HP:0000958 | Dry skin | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000691 | Microdontia | |
| HP:0000545 | Myopia | |
| HP:0000963 | Thin skin | |
| HP:0001537 | Umbilical hernia | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0200020 | Corneal erosion | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001510 | Growth delay | |
| HP:0001539 | Omphalocele | |
| HP:0000233 | Thin vermilion border | |
| HP:0001770 | Toe syndactyly | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/920
- This record as JSON: /data/d/920.json