holoprosencephaly-polydactyly syndrome

Holoprosencephaly-Polydactyly syndrome (HPS) or Pseudotrisomy 13 syndrome are names conferred to clinically categorize patients whose phenotype is congruent with trisomy 13 in the context of a normal karyotype.

The literature suggests that this entity may be secondary to submicroscopic deletions in holoprosencephaly (HPE) genes.

Types

 holoprosencephaly and pre-axial polydactyly
 holoprosencephaly and post-axial polydactyly

Synopsis

 holoprosencephaly-polydactyly association
 craniofacial dysmorphologies

Differential diagnosis

 trisomy 13

whose karyotype

Candidate genes

 HPE causing genes

• SHH
• SIX3
• TGIF
• ZIC2
• GLI3 (associated with polydactyly)
• DISP1
• FOXA2

References

 Cordero DR, Bendavid C, Shanske AL, Haddad BR, Muenke M. Holoprosencephaly-Polydactyly syndrome: In search of an etiology.Eur J Med Genet. 2008 Mar-Apr;51(2):106-12. PMID: 18178536

 Koolen DA, Herbergs J, Veltman JA, Pfundt R, van Bokhoven H, Stroink H, Sistermans EA, Brunner HG, Geurts van Kessel A, de Vries BB. Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. J Hum Genet. 2006;51(8):721-6. PMID: 16865294

 Chang LH. Alobar holoprosencephaly: report of two cases with unusual findings. Chang Gung Med J. 2003 Sep;26(9):700-6. PMID: 14651170

 Amor DJ, Woods CG. Pseudotrisomy 13 syndrome in siblings. Clin Dysmorphol. 2000 Apr;9(2):115-8. PMID: 10826623

 Chen CP, Chern SR, Lee CC, Chen LF, Chuang CY, Chen MH. Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. Prenat Diagn. 1998 Apr;18(4):393-8. PMID: 9602489

 Ramos-Arroyo MA, de Miguel C, Valiente A, Moreno-Laguna S.Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly.Am J Med Genet. 1994 Apr 1;50(2):177-9. PMID: 8010349 [PubMed - indexed for MEDLINE]

 Seller MJ, Chitty LS, Dunbar H.Pseudotrisomy 13 and autosomal recessive holoprosencephaly.J Med Genet. 1993 Nov;30(11):970-1. PMID: 8301659 [PubMed - indexed for MEDLINE]

 Lurie IW, Wulfsberg EA."Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum.Am J Med Genet. 1993 Sep 1;47(3):405-9. Review. PMID: 8135289 [PubMed - indexed for MEDLINE]

 Boles RG, Teebi AS, Neilson KA, Meyn MS. Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia. Am J Med Genet. 1992 Nov 15;44(5):638-40. PMID: 1481825

 Tsai FJ, Tsai CH. Pseudo-trisomy 13 syndrome: report of one case. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992 Nov-Dec;33(6):441-5. PMID: 1306929

 Delozier-Blanchet CD, Engel E.Dysmorphology report holoprosencephaly-polydactyly syndrome: affected brother and sister with a wide spectrum of anomalies.Genet Couns. 1992;3(1):57-8. PMID: 1590983

 Hennekam RC, van Noort G, de la Fuente AA.Familial holoprosencephaly, heart defects, and polydactyly. Am J Med Genet. 1991 Nov 1;41(2):258-62. PMID: 1785646

 Cohen MM Jr, Gorlin RJ. Pseudo-trisomy 13 syndrome. Am J Med Genet. 1991 Jun 1;39(3):332-5; discussion 336-7. Review. PMID: 1867286

 Verloes A, Aymé S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J. Holoprosencephaly-polydactyly (’pseudotrisomy 13’) syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. J Med Genet. 1991 May;28(5):297-303. PMID: 1865466

 Ramaekers PR, Legius E, Verloes A, Gillerot Y, Vandenberghe K, Fryns JP. Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report. Eur J Obstet Gynecol Reprod Biol. 1990 Jul-Aug;36(1-2):161-5. PMID: 2365121

 Bachman H, Clark RD, Salahi W. Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome. J Med Genet. 1990 Jan;27(1):50-2. PMID: 2407847

 Shiota K, Tanimura T. Holoprosencephaly, ventricular septal defect, and postaxial polydactyly in a human embryo. J Med Genet. 1988 Jul;25(7):502-3. PMID: 3172148

 Moerman P, Fryns JP. Holoprosencephaly and postaxial polydactyly: another observation. J Med Genet. 1988 Jul;25(7):501-2. PMID: 3172147

 Young ID, Madders DJ. Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly. J Med Genet. 1987 Nov;24(11):714-5. PMID: 3430550