Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

Polydactyly

A congenital anomaly characterized by the presence of supernumerary fingers or toes.


Total: 2

                       


(per page)
PMID (PMCID)
23633388
 FEMALE Infant
A de novo GLI3 mutation in a patient with acrocallosal syndrome.
Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW.
Am J Med Genet A. 2013;161A(6):1394-400.
A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous GLI3 mutations have also been described in syndromes with overlapping clinical manifestations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, trigonocephaly with craniosynostosis and polydactyly, oral-facial-digital syndrome, and non-syndromic polydactyly.
21910233
 FEMALE Infant
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.
Nampoothiri S, Kuthiroly S, Fauth C, Krabichler B, Attie-Bitach T, Hennekam RC.
Am J Med Genet A. 2011;155A(10):2465-8.
The patients also resemble Greig cephalopolysyndactyly syndrome but the absence of macrocephaly, broad thumbs, polydactyly, affected sibs and parents make this diagnosis unlikely.