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COFS syndrome

MedGen UID:: 1762238
•Concept ID:: C5399761
•: Disease or Syndrome

Synonyms:	Cerebro-oculo-facio-skeletal syndrome; Cerebrooculofacioskeletal Syndrome; PENA-SHOKEIR SYNDROME, TYPE II
SNOMED CT:	CAMAK - Cerebro-oculo-facio-skeletal syndrome (41283003); CAMFAK - Cerebro-oculo-facio-skeletal syndrome (41283003); COFS - Cerebro-oculo-facio-skeletal syndrome (41283003); Pena-Shokeir syndrome type 2 (41283003); Cerebro-oculo-facio-skeletal syndrome (41283003); COFS syndrome (41283003)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0008926
OMIM® Phenotypic series:	PS214150
Orphanet:	ORPHA1466

Definition

Cerebrooculofacioskeletal syndrome (COFS) is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal Syndrome See also COFS2 (610756), caused by mutation in the ERCC2 gene (126340); COFS3 (616570), caused by mutation in the ERCC5 gene (133530); and COFS4 (610758), caused by mutation in the ERCC1 gene (126380). [from OMIM]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

COFS syndrome

Disease
- Non-Neoplastic Disorder
  - Non-Neoplastic Disorder by Special Category
    - Metabolic disease
      - DNA Repair-Deficiency Disorders
        Cockayne syndrome
        COFS syndrome
        Cerebrooculofacioskeletal syndrome 1
        Cerebrooculofacioskeletal syndrome 4

Professional guidelines

PubMed

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis.

Sirchia F, Fantasia I, Feresin A, Giorgio E, Faletra F, Mordeglia D, Barbieri M, Guida V, De Luca A, Stampalija T
BMC Med Genomics 2021 Mar 25;14(1):89. doi: 10.1186/s12920-021-00939-6. PMID: 33766032 Free PMC Article

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.

Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH
Am J Med Genet A 2014 Jul;164A(7):1777-83. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36506. PMID: 24700531

See all (2)

Recent clinical studies

Etiology

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis.

Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.

Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D
JAMA Dermatol 2013 Dec;149(12):1414-8. doi: 10.1001/jamadermatol.2013.6683. PMID: 24154677

Cerebro-oculo-facio-skeletal syndrome.

Suzumura H, Arisaka O
Adv Exp Med Biol 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. PMID: 20687508

Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome.

Del Bigio MR, Greenberg CR, Rorke LB, Schnur R, McDonald-McGinn DM, Zackai EH
J Neuropathol Exp Neurol 1997 Oct;56(10):1147-57. doi: 10.1097/00005072-199710000-00009. PMID: 9329459

COFS syndrome revisited.

Pena SD, Evans J, Hunter AG
Birth Defects Orig Artic Ser 1978;14(6B):205-13. PMID: 728562

See all (11)

Diagnosis

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis.

Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.

Le Van Quyen P, Calmels N, Bonnière M, Chartier S, Razavi F, Chelly J, El Chehadeh S, Baer S, Boutaud L, Bacrot S, Obringer C, Favre R, Attié-Bitach T, Laugel V, Antal MC
Am J Med Genet A 2020 May;182(5):1236-1242. Epub 2020 Feb 13 doi: 10.1002/ajmg.a.61520. PMID: 32052936

Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.

Hosseini M, Ezzedine K, Taieb A, Rezvani HR
J Invest Dermatol 2015 Feb;135(2):341-351. Epub 2014 Oct 9 doi: 10.1038/jid.2014.365. PMID: 25296907

Cockayne syndrome: the expanding clinical and mutational spectrum.

Laugel V
Mech Ageing Dev 2013 May-Jun;134(5-6):161-70. Epub 2013 Feb 18 doi: 10.1016/j.mad.2013.02.006. PMID: 23428416

MICRO syndrome: an entity distinct from COFS syndrome.

Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D
Am J Med Genet A 2004 Jul 30;128A(3):235-45. doi: 10.1002/ajmg.a.30060. PMID: 15216543

See all (20)

Therapy

Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.

Hosseini M, Ezzedine K, Taieb A, Rezvani HR
J Invest Dermatol 2015 Feb;135(2):341-351. Epub 2014 Oct 9 doi: 10.1038/jid.2014.365. PMID: 25296907

Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.

Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D
JAMA Dermatol 2013 Dec;149(12):1414-8. doi: 10.1001/jamadermatol.2013.6683. PMID: 24154677

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG
Am J Hum Genet 2001 Aug;69(2):291-300. Epub 2001 Jul 3 doi: 10.1086/321295. PMID: 11443545 Free PMC Article

Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NG, Kleijer WJ
J Med Genet 1996 Jul;33(7):607-10. doi: 10.1136/jmg.33.7.607. PMID: 8818951 Free PMC Article

Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.

Patton MA, Giannelli F, Francis AJ, Baraitser M, Harding B, Williams AJ
J Med Genet 1989 Mar;26(3):154-9. doi: 10.1136/jmg.26.3.154. PMID: 2468771 Free PMC Article

See all (5)

Prognosis

Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.

Reunert J, van den Heuvel A, Rust S, Marquardt T
Am J Med Genet A 2021 Mar;185(3):930-936. Epub 2020 Dec 27 doi: 10.1002/ajmg.a.62048. PMID: 33369099

COFS type 3 in an Indian family with antenatally detected arthrogryposis.

Panigrahi I, Shankar Prasad BA, Kaur H, Kalra J
Am J Med Genet A 2021 Feb;185(2):631-635. Epub 2020 Nov 21 doi: 10.1002/ajmg.a.61979. PMID: 33219753

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Restrictive dermopathy: report and review.

Mau U, Kendziorra H, Kaiser P, Enders H
Am J Med Genet 1997 Aug 8;71(2):179-85. doi: 10.1002/(sici)1096-8628(19970808)71:2<179::aid-ajmg11>3.0.co;2-b. PMID: 9217218

COFS syndrome revisited.

Pena SD, Evans J, Hunter AG
Birth Defects Orig Artic Ser 1978;14(6B):205-13. PMID: 728562

See all (6)

Clinical prediction guides

COFS type 3 in an Indian family with antenatally detected arthrogryposis.

Panigrahi I, Shankar Prasad BA, Kaur H, Kalra J
Am J Med Genet A 2021 Feb;185(2):631-635. Epub 2020 Nov 21 doi: 10.1002/ajmg.a.61979. PMID: 33219753

Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.

Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D
JAMA Dermatol 2013 Dec;149(12):1414-8. doi: 10.1001/jamadermatol.2013.6683. PMID: 24154677

Disease-causing missense mutations in human DNA helicase disorders.

Suhasini AN, Brosh RM Jr
Mutat Res 2013 Apr-Jun;752(2):138-152. Epub 2012 Dec 28 doi: 10.1016/j.mrrev.2012.12.004. PMID: 23276657 Free PMC Article

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NG, Kleijer WJ
J Med Genet 1996 Jul;33(7):607-10. doi: 10.1136/jmg.33.7.607. PMID: 8818951 Free PMC Article

See all (6)

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COFS syndrome

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Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

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Therapy

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