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Cockayne syndrome type 3

MedGen UID:
196713
Concept ID:
C0751037
Disease or Syndrome
Synonym: Cockayne syndrome, type III
SNOMED CT: Cockayne syndrome type 3 (890432001); Cockayne syndrome type C (890432001)
 
Monarch Initiative: MONDO:0008998
Orphanet: ORPHA90324

Definition

Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly and neurological developmental delay. Type 3 Cockayne syndrome, is the mildest type. [from SNOMEDCT_US]

Professional guidelines

PubMed

Giambona A, Vinciguerra M, Leto F, Cassarà F, Cucinella G, Cigna V, Orlandi E, Piccione M, Picciotto F, Maggio A
J Obstet Gynaecol 2022 Jul;42(5):1524-1531. Epub 2022 Jan 10 doi: 10.1080/01443615.2021.2014429. PMID: 35006018
Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ
Neuroscience 2007 Apr 14;145(4):1388-96. Epub 2007 Feb 1 doi: 10.1016/j.neuroscience.2006.12.020. PMID: 17276014Free PMC Article
Rosell R, Taron M, Alberola V, Massuti B, Felip E
Lung Cancer 2003 Aug;41 Suppl 1:S97-102. doi: 10.1016/s0169-5002(03)00151-x. PMID: 12867068

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