Beare-stevenson cutis gyrata syndrome

Preferred Label : Beare-stevenson cutis gyrata syndrome;

Symbol : BSTVS;

CISMeF acronym : BSTVS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cutis gyrata syndrome of beare and stevenson; Beare-stevenson syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0015);

Prefixed ID : #123790;

Details

Origin ID

123790;

UMLS CUI

C1852406;

Currated CISMeF NLP mapping
- Beare Stevenson syndrome [Disease (Nov.)]
- Beare-Stevenson Cutis Gyrata Syndrome [NCIt concept]
- Beare-Stevenson cutis gyrata syndrome [DO Concept]
- Beare-Stevenson cutis gyrata syndrome [ICD-11 More detail]
- Cutis gyrata syndrome of Beare and Stevenson (disorder) [SNOMED CT concept]
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome [ORDO Disease]
- cutis gyrata syndrome of beare and stevenson [MeSH concept]
- cutis gyrata syndrome of beare and stevenson [MeSH Supplementary Concept]
DO Cross reference
- Beare-Stevenson cutis gyrata syndrome [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 2 [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anteriorly placed anus [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid scrotum [HPO term]
- Chiari malformation [HPO term]
- Choanal atresia [HPO term]
- Choanal stenosis [HPO term]
- Cloverleaf skull [HPO term]
- Craniosynostosis [HPO term]
- Cutis gyrata of scalp [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Early death [HPO term]
- Excessive wrinkled skin (palms and soles) [HPO term]
- Feeding difficulties in infancy [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypertension [HPO term]
- Hypoplastic fingernail [HPO term]
- Hypoplastic labia majora [HPO term]
- Limited elbow extension [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Narrow mouth [HPO term]
- Narrow palate [HPO term]
- Optic atrophy [HPO term]
- Palmoplantar cutis laxa [HPO term]
- Posteriorly rotated ears [HPO term]
- Preauricular skin furrow [HPO term]
- Prominent scrotal raphe [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Redundant neck skin [HPO term]
- Respiratory distress [HPO term]
- Skin tags [HPO term]
- Small nail [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beare Stevenson syndrome [Disease (Nov.)]
- Beare-Stevenson Cutis Gyrata Syndrome [NCIt concept]
- Beare-Stevenson cutis gyrata syndrome [DO Concept]
- Beare-Stevenson cutis gyrata syndrome [ICD-11 More detail]
- Cutis gyrata syndrome of Beare and Stevenson (disorder) [SNOMED CT concept]
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome [ORDO Disease]
- cutis gyrata syndrome of beare and stevenson [MeSH Supplementary Concept]
- cutis gyrata syndrome of beare and stevenson [MeSH concept]

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