Schilbach-rott syndrome

Preferred Label : Schilbach-rott syndrome;

Symbol : SBRS;

CISMeF acronym : BRSS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Cleft palate, hypotelorism, and hypospadias; Ocular hypotelorism, submucosal cleft palate, and hypospadias; BRSS; Blepharofacioskeletal syndrome;

Description : Schilbach-Rott syndrome is an autosomal dominant disorder characterized by hypotelorism, epicanthal folds, cleft palate, dysmorphic facies, and hypospadias in males. The phenotype is variable; mild mental retardation has been reported (summary by Shkalim et al., 2009).;

Inheritance : Autosomal dominant;

Prefixed ID : %164220;

Details

Origin ID

164220;

UMLS CUI

C1834038;

Automatic exact mappings (from CISMeF team)
- Board Recognized Specialist - Swallowing [NCIt concept]
- Brooke-Spiegler syndrome [DO Concept]
- CYLD wt Allele [NCIt concept]
- Hypotelorism - cleft palate - hypospadias [ICD-11 More detail]
Currated CISMeF NLP mapping
- Schilbach Rott syndrome (disorder) [SNOMED CT concept]
- Schilbach-Rott syndrome [ORDO Disease]
- Schilbach-Rott syndrome ocular hypotelorism, submucosal cleft palate, and hypospadias [MeSH Supplementary Concept]
HPO term(s)
- 2-3 toe cutaneous syndactyly [HPO term]
- 3-4 finger cutaneous syndactyly [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Blepharophimosis [HPO term]
- Clinodactyly [HPO term]
- Epicanthus [HPO term]
- Hypospadias [HPO term]
- Hypotelorism [HPO term]
- Intellectual disability, mild [HPO term]
- Long nose [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Narrow mouth [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nose [HPO term]
- Short stature [HPO term]
- Submucous cleft hard palate [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Schilbach-Rott syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Schilbach Rott syndrome (disorder) [SNOMED CT concept]
- Schilbach-Rott syndrome [ORDO Disease]
- Schilbach-Rott syndrome ocular hypotelorism, submucosal cleft palate, and hypospadias [MeSH Supplementary Concept]
- Schilbach-Rott syndrome ocular hypotelorism, submucosal cleft palate, and hypospadias [MeSH concept]

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