Details of Disease | DrugMAP

General Information of Disease (ID: DISS2MSO)

Disease Name	Beare-Stevenson cutis gyrata syndrome
Synonyms	cutis gyrata - acanthosis nigricans - craniosynostosis; Beare Stevenson syndrome; cutis gyrata syndrome of Beare and Stevenson; cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; BSTVS; Beare-Stevenson syndrome; Beare-Stevenson cutis gyrata syndrome
Definition	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.
Disease Hierarchy	DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISEUVBK: Syndromic craniosynostosis DIS3HIWD: Autosomal dominant disease DISS2MSO: Beare-Stevenson cutis gyrata syndrome
Disease Identifiers	MONDO ID MONDO_0007412 MESH ID C565129 UMLS CUI C1852406 OMIM ID 123790 MedGen ID 377668 Orphanet ID 1555 SNOMED CT ID 703528008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR1	TTRLW2X	Strong	Biomarker	[1]
FGFR2	TTGJVQM	Definitive	Autosomal dominant	[2]
FGFR2	TTGJVQM	Definitive	Biomarker	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGFR2	OTLOPACK	Definitive	Autosomal dominant	[2]
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References

1	Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3	Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.Genet Med. 2017 Oct;19(10):1171-1178. doi: 10.1038/gim.2017.31. Epub 2017 Apr 20.