ORPHA:1231
Barber-Say syndrome
Synonyms: Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare congenital malformation syndrome with neonatal onset characterized by congenital generalized hypertrichosis, redundant skin and facial dysmorphism such as ectropion and macrostomia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Barber-Say syndrome | Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome |
| fr | Syndrome de Barber-Say | Syndrome d'hypertrichose-atrophie cutanée-ectropion-macrostomie |
| de | Barber-Say-Syndrom | Hypertrichose - Hautatrophie - Ektropium - Makrostomie |
| es | Síndrome de Barber-Say | |
| it | Sindrome di Barber-Say | Ipertricosi - atrofia cutanea - ectropion - macrostomia |
| nl | Syndroom van Barber-Say | Hypertrichose - atrofische huid - ectropion - macrostomie-syndroom |
| pt | Síndrome Barber-Say | Hipertricose-atrofia cutânea-ectropion-macrostomia |
| pl | Zespół Barbera i Say | Hipertrichoza - skóra atroficzna - ektropion - makrostomia |
| cs | Barberův-Sayův syndrom | Syndrom zahrnující hypertrichózu, atrofickou kůži, ektropion a makrostomii · Barber-Sayův syndrom |
| uk | Синдром Барбера-Сея | Синдром гіпертрихозу-атрофічної шкіри-ектропіону-макростомії |
| zh | Barber-Say综合征 | 多毛-皮肤萎缩-睑外翻-大口畸形综合征 |
| tr | Barber-Say sendromu | Hipertrikoz-atrofik deri-ektropiyon-makrostomi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 209885 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD27.3 | NTBT | index | validated |
| MONDO | 0008853 | E | validated | |
| MeSH | C537908 | E | validated | |
| UMLS | C1319466 | E | validated | |
| GARD | 819 | 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 (5):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - 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:79365Rare disorder with hypertrichosis
rare genetic diseases; rare skin diseases - ORPHA:98571Secondary ectropion
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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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 | 16 cases | Worldwide | Case(s) | Validated | 27196381[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
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0000463 | Anteverted nares | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0000414 | Bulbous nose | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000656 | Ectropion | |
| HP:0001508 | Failure to thrive | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0001582 | Redundant skin | |
| HP:0200102 | Sparse or absent eyelashes | |
| HP:0000506 | Telecanthus | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0100783 | Breast aplasia | |
| HP:0000974 | Hyperextensible skin | |
| HP:0002557 | Hypoplastic nipples | |
| Occasional (29-5%) | ||
| HP:0011224 | Ablepharon | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000049 | Shawl scrotum | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1231
- This record as JSON: /data/d/1231.json