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.

Failure to thrive

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.


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PMID (PMCID)
26173784
 MALE Child
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.
Cui YP, Chen YY, Wang XM, Wang XL, Nan X, Zhao H.
Pediatr Neurol. 2015;53(3):262-5.
Cockayne syndrome (MIM #133540, Cockayne syndrome B; 216400, Cockayne syndrome A) is a rare autosomal recessive inherited disease in which the characteristic symptoms are premature aging, cachectic dwarfism, lack of subcutaneous fat, neurological alterations, light sensitivity, and failure to thrive.
26173784
 MALE Child
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.
Cui YP, Chen YY, Wang XM, Wang XL, Nan X, Zhao H.
Pediatr Neurol. 2015;53(3):262-5.
Cockayne syndrome (MIM #133540, Cockayne syndrome B; 216400, Cockayne syndrome A) is a rare autosomal recessive inherited disease in which the characteristic symptoms are premature aging, cachectic dwarfism, lack of subcutaneous fat, neurological alterations, light sensitivity, and failure to thrive.
26173784
 MALE Child
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.
Cui YP, Chen YY, Wang XM, Wang XL, Nan X, Zhao H.
Pediatr Neurol. 2015;53(3):262-5.
Cockayne syndrome (MIM #133540, Cockayne syndrome B; 216400, Cockayne syndrome A) is a rare autosomal recessive inherited disease in which the characteristic symptoms are premature aging, cachectic dwarfism, lack of subcutaneous fat, neurological alterations, light sensitivity, and failure to thrive.
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.