Schilbach-Rott syndrome
Synonyms: BRSS · Hypotelorism-cleft palate-hypospadias syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Schilbach-Rott syndrome | BRSS · Hypotelorism-cleft palate-hypospadias syndrome |
| fr | Syndrome de Schilbach-Rott | Syndrome d'hypotélorisme-fente palatine-hypospadias |
| de | Schilbach-Rott-Syndrom | BRSS · Hypotelorismus - Gaumenspalte - Hypospadie |
| es | Síndrome de Schilbach-Rott | BRSS · Síndrome de hipotelorismo-paladar hendido-hipospadias |
| it | Sindrome di Schilbach-Rott | BRSS · Ipotelorismo - palatoschisi - ipospadia |
| nl | Syndroom van Schilbach-Rott | BRSS · Hypotelorisme - gespleten verhemelte - hypospadie-syndroom |
| pt | Síndrome Schilbach-Rott | Síndrome de hipotelorismo-fenda palatina-hipospadias |
| pl | Zespół Schilbacha i Rotta | BRSS · Hipoteloryzm - rozszczep podniebienia - spodziectwo |
| cs | Schilbachův-Rottův syndrom | BRSS · Syndrom zahrnující hypotelorismus, rozštěp patra a hypospadii · Schilbach-Rottův syndrom |
| uk | Синдром Шильбаха-Ротта | BRSS · Синдром гіпотелоризму-розщілини піднебіння-гіпоспадії |
| zh | Schilbach-Rott综合征 | 眼距过短-腭裂-尿道下裂综合征 |
| tr | Schilbach-Rott sendromu | BRSS · Hipotelorizm-yarık damak-hipospadias sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164220 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008113 | E | validated | |
| MeSH | C563509 | E | validated | |
| UMLS | C1834038 | E | validated | |
| GARD | 2930 | 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: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: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:1251Blepharofacioskeletal syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTCH1 | Role in the phenotype of | Assessed | HGNC:9585 | ENSG00000185920 | 601309 | 9q22.32 | patched 1 | 30936464[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 19921646[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19921646[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2353
- This record as JSON: /data/d/2353.json