Branchioskeletogenital syndrome
Synonyms: BSG syndrome · Elsahy-Waters syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked dominant
- Age of onset
- Neonatal
- Status
- active
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Branchioskeletogenital syndrome | BSG syndrome · Elsahy-Waters syndrome |
| fr | Syndrome branchiosquelettogénital | Syndrome BSG · Syndrome Elsahy-Waters |
| de | Branchio-skeleto-genitales Syndrom | BSG-Syndrom · Elsahy-Waters-Syndrom |
| es | Síndrome branquio-esqueleto-genital | Síndrome BSG · Síndrome de Elsahy-Waters |
| it | Sindrome branchio-scheletro-genitale | Sindrome BSG |
| nl | Branchioskeletogenitaal syndroom | BSG-syndroom · Syndroom van Elsahy-Waters |
| pt | Síndrome braquio-esqueleto-genital | |
| pl | Zespół skrzelowo-szkieletowo-płciowy | Zespół BSG · Zespół BSG · Zespół Elsahy i Watersa |
| cs | Branchioskeletogenitální syndrom | BSG syndrom |
| uk | Бранхіоскелетогенітальний синдром | Синдром BSG · Синдром Елсахі-Уотерса |
| zh | 鳃骨生殖器综合征 | Elsahy-Waters综合征 |
| tr | Brankioskeletogenital sendromu | BSG sendromu · Elsahy-Waters sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211380 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008885 | E | validated | |
| MeSH | C537084 | E | validated | |
| UMLS | C0809936 | E | validated | |
| GARD | 955 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:157788Hypospadias-hypertelorism-coloboma and deafness syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDH11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1750 | ENSG00000140937 | 600023 | 16q21 | cadherin 11 | 28988429[PMID]_29271567[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 5141271[PMID]_9843000[PMID]_20949527[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5141271[PMID]_9843000[PMID]_20949527[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
55 annotations · validated 2017-04-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000309 | Abnormal midface morphology | |
| HP:0010299 | Abnormality of dentin | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0002679 | Abnormality of the sella turcica | |
| HP:0008516 | Abnormality of the vertebral spinous processes | |
| HP:0010724 | Advanced pneumatization of the mastoid process | |
| HP:0009907 | Attached earlobe | |
| HP:0000193 | Bifid uvula | |
| HP:0010749 | Blepharochalasis | |
| HP:0000248 | Brachycephaly | |
| HP:0000455 | Broad nasal tip | |
| HP:0000670 | Carious teeth | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0012368 | Flat face | |
| HP:0000348 | High forehead | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0009748 | Large earlobe | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0000054 | Micropenis | |
| HP:0000767 | Pectus excavatum | |
| HP:0000808 | Penoscrotal hypospadias | |
| HP:0000607 | Periorbital wrinkles | |
| HP:0000307 | Pointed chin | |
| HP:0000520 | Proptosis | |
| HP:0011072 | Rootless teeth | |
| HP:0000470 | Short neck | |
| HP:0000486 | Strabismus | |
| HP:0000176 | Submucous cleft hard palate | |
| HP:0000664 | Synophrys | |
| HP:0000506 | Telecanthus | |
| HP:0002684 | Thickened calvaria | |
| HP:0100334 | Unilateral cleft palate | |
| Frequent (79-30%) | ||
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0001363 | Craniosynostosis | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000410 | Mixed hearing impairment | |
| HP:0006480 | Premature loss of teeth | |
| HP:0000322 | Short philtrum | |
| HP:0000233 | Thin vermilion border | |
| HP:0003423 | Thoracolumbar kyphoscoliosis | |
| Occasional (29-5%) | ||
| HP:0000625 | Eyelid coloboma | |
| HP:0001250 | Seizure | |
| HP:0000071 | Ureteral stenosis | |
| Very rare (<4-1%) | ||
| HP:0000042 | Absent external genitalia | |
| HP:0002561 | Absent nipple | |
| HP:0009818 | Amelia involving the lower limbs | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0002836 | Bladder exstrophy | |
| HP:0001537 | Umbilical hernia | |
| HP:0009814 | Upper limb peromelia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20949527[PMID]_6575818[PMID]_7625440[PMID]_5141271[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1299
- This record as JSON: /data/d/1299.json