Table 3.

Disorders to Consider in the Differential Diagnosis of Cockayne Syndrome

DiffDx DisorderGene(s)MOIClinical Features of Cockayne Syndrome
Also in DiffDx disorderNot in DiffDx disorder
Connatal form of Pelizaeus-Merzbacher disease 1 PLP1 XL
  • Growth failure
  • Hypomyelination
  • Severe growth failure
  • Distinctive physical appearance
Cornelia de Lange syndrome HDAC8
NIPBL
RAD21
SMC1A
SMC3 		AD
XL		Profound growth failureDistinctive physical appearance
Dubowitz syndrome (OMIM 223370)??
Hallerman-Streiff syndrome (OMIM 234100)??
Rubinstein-Taybi syndrome CREBBP
EP300 		AD
Silver-Russell syndrome See footnote 2.
Seckel syndrome (OMIM PS210600)~9 genes 3AR
Wiedemann-Rautenstrauch syndrome (OMIM 264090) POLR3A AR
Congenital infections (e.g., rubella or toxoplasmosis)NANACalcifications on brain imaging
  • White matter hypomyelination
  • Distinctive physical appearance
Disorders of calcium & phosphate metabolism
Xeroderma pigmentosum 9 genes 4ARProminent photosensitivity &/or thinning of skin & hair
  • White matter hypomyelination
  • Brain calcifications
  • Ataxia
  • Spasticity
  • Neurodegenerative features
Bloom syndrome BLM AR
Hutchinson-Gilford progeria syndrome LMNA AD
Werner syndrome WRN AR
Rothmund-Thompson syndrome RECQL4 AR
Mitochondrial disorders See footnote 5.AD
AR
Mat
  • Early presence of pigmentary retinopathy
  • Brain calcifications
  • Neurodegeneration
  • Skin photosensitivity
  • Distinctive physical appearance

? = unknown; AD = autosomal dominant; AR = autosomal recessive; COFS = cerebrooculofacioskeletal syndrome; CS = Cockayne syndrome; DiffDx = differential diagnosis; Mat = maternal; MOI = mode of inheritance; NA = not applicable; XL = X-linked

1.

Most leukodystrophies are not associated with growth failure, with the possible exception of the connatal form of Pelizaeus-Merzbacher disease.

2.

Silver-Russell syndrome has multiple etiologies including: epigenetic changes that modify expression of genes in the imprinted region of chromosome 11p15.5, maternal UPD7, and (infrequently) autosomal dominant or autosomal recessive inheritance.

3.

ATR, CENPJ, CEP152, CEP63, DNA2, NIN, NSMCE2, RBBP8, TRAIP

4.

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC

5.

Mitochondrial disorders can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA (see Mitochondrial Disorders Overview).

From: Cockayne Syndrome

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