Robinow syndrome

Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.

Brachydactyly

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.


合計: 2

                       


（表示件数）
PMID (PMCID)
21693067
(3135502)
 MIXED_SAMPLE Adult
9q22 Deletion--first familial case.
Siggberg L, Peippo M, Sipponen M, Miikkulainen T, Shimojima K, Yamamoto T, Ignatius J, Knuutila S.
Orphanet J Rare Dis. 2011;6:45.
The deletion does not involve the PTCH1 gene, but instead 30 other gene,s including the ROR2 gene (MIM *602337) which causing both brachydactyly type 1 (MIM #113000) and Robinow syndrome (MIM #268310), and the immunologically active SYK gene (MIM *600085).
12548386
 MALE
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.
Olivieri C, Maraschio P, Caselli D, Martini C, Beluffi G, Maserati E, Danesino C.
Eur J Pediatr. 2003;162(2):100-3.
Mutations of the former cause the nevoid basal cell carcinoma syndrome (NBCCS) while mutations in the ROR2 gene have been found both in Robinow syndrome and in brachydactyly type 1B (BDB1).