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.

Pigmentary retinopathy

An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

Total: 5

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PMID (PMCID)
21477313 (3083330)	MIXED_SAMPLE	Infant
	Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis.
	Abdel Ghaffar TY, Elsobky ES, Elsayed SM. Orphanet J Rare Dis. 2011;6:13.
	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract, and sensorineural hearing loss.
18637129 (2605190)	MALE
	Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
	Emmert S, Ueda T, Zumsteg U, Weber P, Khan SG, Oh KS, Boyle J, Laspe P, Zachmann K, Boeckmann L, Kuschal C, Bircher A, Kraemer KH. Exp Dermatol. 2009;18(1):64-8.
	Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, cataracts, pigmentary retinopathy and spasticity) were absent.
11443545	MIXED_SAMPLE	Infant, Newborn
	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;69(2):291-300.
	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or cataracts, and sensorineural hearing loss.
10739753	MIXED_SAMPLE	Child
	Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.
	Meira LB, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC. Am J Hum Genet. 2000;66(4):1221-8.
	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary retinopathy, cataracts, or both; and sensorineural hearing loss.
9823492	FEMALE	Infant, Newborn
	Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity?
	Nowaczyk MJ, Hughes HE, Costa T, Clarke JT. Clin Dysmorphol. 1998;7(4):263-8.
	The abnormalities observed in this patient overlap with those of WRS, Cockayne syndrome, type A (CSA), and osteodysplastic primordial dwarfism type III (OPD III), but also include choanal atresia and pigmentary retinopathy.