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holoprosencephaly-polydactyly syndrome

Friday 4 April 2008

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.


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


- 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


- 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, AymĂ© 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