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.

Feeding difficulties

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.


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PMID (PMCID)
21376145
 FEMALE Infant
Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.
Ghai SJ, Shago M, Shroff M, Yoon G.
Eur J Med Genet. 2011;54(3):272-6.
Cockayne syndrome is a rare multi-systemic autosomal recessive condition characterized by variable post natal growth failure, neurological impairment, feeding difficulty, and progressive skin, ophthalmological, auditory and dental abnormalities.