U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cutis verticis gyrata and intellectual disability(CVG/MR)

MedGen UID:
387821
•Concept ID:
C1857444
•
Disease or Syndrome
Synonyms: Cutis verticis gyrata and mental retardation; CVG/MR
 
Monarch Initiative: MONDO:0009056
OMIM®: 219300
Orphanet: ORPHA1557

Clinical features

From HPO
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
Cutis gyrata of scalp
MedGen UID:
78095
•Concept ID:
C0263417
•
Disease or Syndrome
The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.
See: Feature record | Search on this feature
Show allHide all

Recent clinical studies

Etiology

Natural history of aging in Cornelia de Lange syndrome.
Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz I, Kimball A, Pichard C, Tuchman D
Am J Med Genet C Semin Med Genet 2007 Aug 15;145C(3):248-60. doi: 10.1002/ajmg.c.30137. PMID: 17640042Free PMC Article
An endocrinological study of patients with primary cutis verticis gyrata.
Palazzo R, Schepis C, Ruggeri M, Baldini L, Pizzimenti A, Arcoraci V, Spina E
Acta Derm Venereol 1993 Oct;73(5):348-9. doi: 10.2340/0001555573348349. PMID: 7904399

Diagnosis

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.
Tucci A, Pezzani L, Scuvera G, Ronzoni L, Scola E, Esposito S, Milani D
Am J Med Genet A 2017 Mar;173(3):638-646. Epub 2016 Dec 25 doi: 10.1002/ajmg.a.38054. PMID: 28019079
Cutis verticis gyrata associated with periventricular calcifications.
Vanhoenacker FM, De Grave C, Catry F
Rofo 2007 Oct;179(10):1074-5. Epub 2007 Aug 3 doi: 10.1055/s-2007-963280. PMID: 17674303
Natural history of aging in Cornelia de Lange syndrome.
Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz I, Kimball A, Pichard C, Tuchman D
Am J Med Genet C Semin Med Genet 2007 Aug 15;145C(3):248-60. doi: 10.1002/ajmg.c.30137. PMID: 17640042Free PMC Article
Primary cutis verticis gyrata or pachydermia verticis gyrata: a peculiar scalp disorder of mentally retarded adult males.
Schepis C, Siragusa M
Dermatology 1995;191(4):292-4. doi: 10.1159/000246572. PMID: 8573924
Cutis verticis gyrata and the Lennox syndrome.
Paulson GW
Dev Med Child Neurol 1974 Apr;16(2):196-200. doi: 10.1111/j.1469-8749.1974.tb02742.x. PMID: 4209599

Prognosis

Cutis verticis gyrata, underrecognized neurocutaneous syndrome.
Chang GY
Neurology 1996 Aug;47(2):573-5. doi: 10.1212/wnl.47.2.573. PMID: 8757042
The incidence of cutis verticis gyrata in three low-grade mental defectives.
KRATTER FE
J Ment Sci 1958 Jul;104(436):850-4. doi: 10.1192/bjp.104.436.850. PMID: 13588344

Clinical prediction guides

Natural history of aging in Cornelia de Lange syndrome.
Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz I, Kimball A, Pichard C, Tuchman D
Am J Med Genet C Semin Med Genet 2007 Aug 15;145C(3):248-60. doi: 10.1002/ajmg.c.30137. PMID: 17640042Free PMC Article
Scalp hair patterns in mental subnormality.
David TJ, Osborne CM
J Med Genet 1976 Apr;13(2):123-6. doi: 10.1136/jmg.13.2.123. PMID: 132531Free PMC Article

Recent systematic reviews

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.
Tucci A, Pezzani L, Scuvera G, Ronzoni L, Scola E, Esposito S, Milani D
Am J Med Genet A 2017 Mar;173(3):638-646. Epub 2016 Dec 25 doi: 10.1002/ajmg.a.38054. PMID: 28019079

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...