Robinow syndrome is a rare heterogenous genetic disorder with at least two distinct forms.
The syndrome can affects several systems which include:
- mesomelic limb shortening: mesomelia
- characteristic facies anomalies
- micropenis in males
- hypoplasia of the clitoris and labia minora in females.
- cryptorchidism 7
Both autosomal dominant and autosomal recessive forms exist.
The autosomal recessive form of the disorder has been linked to the ROR2 gene on position 9 of the long arm of chromosome 9.
History and etymology
It was first described in 1969 by Meinhard Robinow 2: geneticist (and his colleagues).
- 1. Patton MA, Afzal AR. Robinow syndrome. J. Med. Genet. 2002;39 (5): 305-10. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
- 2. Robinow M. The Robinow (fetal face) syndrome: a continuing puzzle. Clin. Dysmorphol. 1993;2 (3): 189-98. - Pubmed citation
- 3. Butler MG, Wadlington WB. Robinow syndrome: report of two patients and review of literature. Clin. Genet. 1987;31 (2): 77-85. - Pubmed citation
- 4. Teebi AS. Autosomal recessive Robinow syndrome. Am. J. Med. Genet. 1990;35 (1): 64-8. doi:10.1002/ajmg.1320350112 - Pubmed citation
- 5. Mazzeu JF, Pardono E, Vianna-morgante AM et-al. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am. J. Med. Genet. A. 2007;143 (4): 320-5. doi:10.1002/ajmg.a.31592 - Pubmed citation
- 6. Eronat N, Cogulu D, Ozkinay F. A case report on autosomal recessive Robinow syndrome. Eur J Paediatr Dent. 2009;10 (3): 147-50. - Pubmed citation
- 7. Hutson JM, Southwell BR, Li R, Lie G, Ismail K, Harisis G, Chen N. The regulation of testicular descent and the effects of cryptorchidism. Endocrine reviews. 34 (5): 725-52. doi:10.1210/er.2012-1089 - Pubmed