Cockayne syndrome

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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PMID (PMCID)
29422660
 MALE Infant
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.
Schalk A, Greff G, Drouot N, Obringer C, Dollfus H, Laugel V, Chelly J, Calmels N.
Eur J Hum Genet. 2018;26(4):527-536.
Cockayne syndrome is an autosomal recessive multisystem disorder characterized by intellectual disability, microcephaly, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.
28848724
(5552663)
 OTHER
A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome.
Taghdiri M, Dastsooz H, Fardaei M, Mohammadi S, Farazi Fard MA, Faghihi MA.
Front Pediatr. 2017;5:169.
Cockayne syndrome (CS) is a rare autosomal recessive multisystem disorder characterized by impaired neurological and sensory functions, cachectic dwarfism, microcephaly, and photosensitivity.
26749132
 MIXED_SAMPLE Infant
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.
Wilson BT, Lochan A, Stark Z, Sutton RE.
Am J Med Genet A. 2016;170(3):773-6.
Cockayne syndrome is caused by biallelic ERCC8 (CSA) or ERCC6 (CSB) mutations and is characterized by growth restriction, microcephaly, developmental delay, and premature pathological aging.
19309286
 MIXED_SAMPLE Infant, Newborn
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene.
Conte C, D'Apice MR, Botta A, Sangiuolo F, Novelli G.
Genet Test Mol Biomarkers. 2009;13(1):127-31.
Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, microcephaly, mental retardation, retinal pigmentary degeneration, deafness, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.
17419442
 FEMALE Adult
[A case of juvenile lung cancer with suspected progeroid syndrome and mental retardation].
Kawakami M, Kobayashi A, Bando M, Tsujita A, Yamasawa H, Ohno S, Sugiyama Y.
Nihon Kokyuki Gakkai Zasshi. 2007;45(3):272-6.
Cockayne syndrome, one of the progeroid syndromes, was suspected because of mental retardation, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, microcephaly, senile face, short stature, and cachectic habitus.
15887300
 FEMALE Adult
Cockayne syndrome: the developing phenotype.
Tan WH, Baris H, Robson CD, Kimonis VE.
Am J Med Genet A. 2005;135(2):214-6.
Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, "cachectic dwarfism" and progressive neurological degeneration.
8068222
(3053904)
 MALE
Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.
Park SK, Chang SH, Cho SB, Baek HS, Lee DY.
J Korean Med Sci. 1994;9(1):74-7.
Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities.
1659795
 MALE Infant
[Peripheral neuropathy as a presenting form of Cockayne syndrome].
Campistol Plana J, Riverola de Veciana A, Poo Arguelles P, Colomer Oferil J, Moreno Hernandez J.
Arch Neurobiol (Madr). 1991;54(4):141-5.
We report a clinical observation of an infant aged 5 months with Cockayne syndrome whose symptomatology included failure to thrive, microcephaly, peripheral neuropathy and elevated level of protein in CSF.
4031953
 MIXED_SAMPLE Child
Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings.
Leech RW, Brumback RA, Miller RH, Otsuka F, Tarone RE, Robbins JH.
J Neuropathol Exp Neurol. 1985;44(5):507-19.
Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, peripheral neuropathy, and spastic quadriplegia.