JSON

Beare-Stevenson cutis gyrata syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007412

A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy. [ Orphanet:1555 ]

Synonyms: Beare-Stevenson cutis gyrata syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:123790 (Orphanet:1555/e)
  • NCIT:C123813 (MONDO:equivalentTo)
  • DOID:0050660 (MONDO:equivalentTo)
  • Orphanet:1555 (OMIM:123790)
  • ICD9:759.89 (MONDO:relatedTo)
  • UMLS:C1852406 (Orphanet:1555)
  • GARD:332 (Orphanet:1555)
  • MESH:C565129 (MONDO:equivalentTo)
  • SCTID:703528008 (MONDO:equivalentTo)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6751

https://github.com/monarch-initiative/mondo/issues/4948

https://github.com/monarch-initiative/mondo/issues/5682

exactMatch

http://linkedlifedata.com/resource/umls/id/C1852406

https://omim.org/entry/123790

http://purl.obolibrary.org/obo/DOID_0050660

http://purl.obolibrary.org/obo/NCIT_C123813

http://identifiers.org/mesh/C565129

http://www.orpha.net/ORDO/Orphanet_1555

http://identifiers.org/snomedct/703528008

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005093

http://purl.obolibrary.org/obo/MONDO_0021154

has related synonym

cutis gyrata syndrome of Beare and Stevenson

Beare Stevenson syndrome

BSTVS

cutis gyrata - acanthosis nigricans - craniosynostosis

Beare-Stevenson syndrome

cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

id

MONDO:0007412

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0007412

https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome