ORPHA:3047
Blepharophimosis-intellectual disability syndrome, SBBYS type
Synonyms: Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome · SBBYS variant of Ohdo syndrome · SBBYSS · Say-Barber-Biesecker-Young-Simpson syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blepharophimosis-intellectual disability syndrome, SBBYS type | Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome · SBBYS variant of Ohdo syndrome · SBBYSS · Say-Barber-Biesecker-Young-Simpson syndrome |
| fr | Syndrome de blépharophimosis-déficience intellectuelle type SBBYS | SBBYSS · Syndrome d'hypothyroïdie-dysmorphie-polydactylie post-axiale-déficience intellectuelle · Syndrome de Say-Barber-Biesecker-Young-Simpson · Variant SBBYS du syndrome d'Ohdo |
| de | Blepharophimose-Intelligenzminderung-Syndrom Typ SBBYS | Hypothyreose-Dysmorphien-postaxiale Polydaktylie-Intelligenzminderung-Syndrom · Ohdo-Syndrom, SBBYS-Variante · SBBYSS · Say-Barber-Biesecker-Young-Simpson-Syndrom |
| es | Síndrome de blefarofimosis-discapacidad intelectual tipo SBBYS | SBBYSS · Síndrome de Say-Barber-Biesecker-Young-Simpson · Síndrome de hipotiroidismo-dismorfia-polidactilia postaxial-discapacidad intelectual · Variante SBBYS del síndrome de Ohdo |
| it | Sindrome blefarofimosi-disabilità intellettiva, tipo SBBYS | SBBYSS · Sindrome da ipotiroidismo, dismorfismi, polidattilia postassiale, disabilità intellettiva · Sindrome di Say-Barber-Biesecker-Young-Simpson · Variante SBBYS della sindrome di Ohdo · Sindrome ipotiroidismo-dismorfismi-polidattilia postassiale-disabilità intellettiva |
| nl | Blefarofimose - intellectuele achterstand-syndroom, SBBYS-type | Hypothyreoïdie - dysmorfie - postaxiale polydactylie - intellectuele achterstand-syndroom · SBBYS-variant van syndroom van Ohdo · SBBYSS · Syndroom van Say-Barber-Biesecker-Young-Simpson |
| pt | Síndrome de blefarofimose-perturbação do desenvolvimento intelectual, tipo SBBYS | SBBYSS · Síndrome Say-Barber-Biesecker-Young-Simpson · Síndrome de hipotiroidismo-dismorfia-polidatilia pós-axial-perturbação do desenvolvimento intelectual · Variante SBBYS da síndrome Ohdo |
| pl | Zespół zwężenia szpary powiekowej i niepełnosprawności intelektualnej typu SBBYS | Niedoczynność tarczycy- dysmorfia - polidaktylia pozaosiowa - niepełnosprawność intelektualna · Zespół Say'a, Barbera, Bieseckera, Younga i Simpsona · Zespół zwężenie szpary powiekowej-upośledzenie umysłowe typu zespołu Say'a, Barbera, Bieseckera, Younga i Simpsona |
| cs | Syndrom zahrnující blefarofimózu a mentální retardaci, SBBYS typ | Syndrom zahrnující hypotyreózu, dysmorfismus, postaxiální polydaktylii a mentální retardaci · SBBYSS · Sayův-Barberův-Bieseckerův-Youngův-Simpsonův syndrom · Say-Barber-Biesecker-Young-Simpsonův syndrom |
| uk | Синдром блефарофімозу- інтелектуальної недостатності, тип SBBYS | Синдром гіпотиреозу - дисморфізму - постаксіальної полідактилії - інтелектуальної недостатності · Синдром Сэя-Барбера-Бизекера-Янга-Симпсона · SBBYS варіант синдрому Одо · SBBYSS |
| zh | 睑裂狭小-智力障碍综合征，SBBYS亚型 | Say-Barber-Biesecker-Young-Simpson综合征 |
| tr | Blefarofimozis-zihinsel yetersizlik sendromu, SBBYS tipi | Hipotiroidi-dismorfizm-postaksiyal polidaktili-zihinsel yetersizlik sendromu · SBBYSS · Say-Barber-Biesecker-Young-Simpson sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603736 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 5A00.0Y | NTBT | index | validated |
| MONDO | 0011365 | E | validated | |
| MeSH | C536717 | E | validated | |
| UMLS | C1863557 | 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 (3):
- ORPHA:293642Blepharophimosis-intellectual disability syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:597749KAT6B-related multiple congenital anomalies syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare urogenital diseases; rare bone diseases - ORPHA:177107Syndromic hypothyroidism
rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KAT6B | Disease-causing germline mutation(s) in | Assessed | HGNC:17582 | ENSG00000156650 | 605880 | 10q22.2 | lysine acetyltransferase 6B | 22715153[PMID]_23236640[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 122 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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.
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HPO phenotypes
43 annotations · validated 2017-07-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0000414 | Bulbous nose | |
| HP:0000028 | Cryptorchidism | |
| HP:0001263 | Global developmental delay | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0003189 | Long nose | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000448 | Prominent nose | |
| HP:0000269 | Prominent occiput | |
| HP:0000278 | Retrognathia | |
| HP:0003510 | Severe short stature | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000340 | Sloping forehead | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0009738 | Abnormality of the antihelix | |
| HP:0004426 | Abnormality of the cheek | |
| HP:0001631 | Atrial septal defect | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0000193 | Bifid uvula | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100028 | Ectopic thyroid | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0001382 | Joint hypermobility | |
| HP:0000252 | Microcephaly | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001561 | Polyhydramnios | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001250 | Seizure | |
| HP:0000176 | Submucous cleft hard palate | |
| HP:0008191 | Thyroid agenesis | |
| HP:0008188 | Thyroid dysgenesis | |
| HP:0005990 | Thyroid hypoplasia | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0000614 | Abnormal nasolacrimal system morphology | |
| HP:0100648 | Neoplasm of the tongue | |
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/3047
- This record as JSON: /data/d/3047.json