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Oliver syndrome

MedGen UID:
342472
Concept ID:
C1850320
Disease or Syndrome
Synonym: POSTAXIAL POLYDACTYLY AND MENTAL RETARDATION
SNOMED CT: Postaxial polydactyly and intellectual disability syndrome (721017000); Oliver syndrome (721017000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009777
OMIM®: 258200
Orphanet: ORPHA2920

Definition

A very rare syndrome with characteristics of intellectual deficit, postaxial polydactyly and epilepsy. To date, seven individuals in three families have been reported. Facial features are not characteristic except for a prominent jaw. Concordant features in all subjects are postaxial polydactyly, which in four individuals affect also the feet, and intellectual deficit, which is usually severe, with absent or indistinct speech. Seizures are common with onset in the first months of life or in early childhood. Cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes have been recorded. [from SNOMEDCT_US]

Clinical features

From HPO
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOliver syndrome
Follow this link to review classifications for Oliver syndrome in Orphanet.

Professional guidelines

PubMed

Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, Rio M, Rabia SH, Daire VC, Baujat G
Am J Med Genet A 2020 Jan;182(1):29-37. Epub 2019 Oct 25 doi: 10.1002/ajmg.a.61364. PMID: 31654484
Browning JC
Dermatol Ther 2013 Nov-Dec;26(6):439-44. doi: 10.1111/dth.12106. PMID: 24552406

Recent clinical studies

Etiology

Dedania VS, Moinuddin O, Lagrou LM, Sathrasala S, Cord Medina FM, Del Monte MA, Chang EY, Bohnsack BL, Besirli CG
Ophthalmol Retina 2019 Sep;3(9):791-801. Epub 2019 May 1 doi: 10.1016/j.oret.2019.03.025. PMID: 31147303
Ogawa M, Sawaguchi S, Kamemura K, Okajima T
Exp Neurol 2015 Dec;274(Pt B):166-74. Epub 2015 Aug 14 doi: 10.1016/j.expneurol.2015.08.009. PMID: 26278182
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987
Whitley CB, Gorlin RJ
Am J Med Genet 1991 Sep 1;40(3):319-26. doi: 10.1002/ajmg.1320400315. PMID: 1951437
Arand AG, Ball WS, Crone KR
Pediatr Neurosurg 1991-1992;17(4):203-7. doi: 10.1159/000120598. PMID: 1822137

Diagnosis

Gao Y, Fu Z, Guan J, Liu X, Zhang Q
Biochem Pharmacol 2023 Jan;207:115377. Epub 2022 Dec 10 doi: 10.1016/j.bcp.2022.115377. PMID: 36513140
Kasinathan A, Sharawat IK, Das G, Sankhyan N
Indian J Pediatr 2019 Jan;86(1):101-102. Epub 2018 Jun 9 doi: 10.1007/s12098-018-2720-2. PMID: 29948730
Schouten JN, Verheij J, Seijo S
Orphanet J Rare Dis 2015 May 30;10:67. doi: 10.1186/s13023-015-0288-8. PMID: 26025214Free PMC Article
Bellet JS
Semin Perinatol 2013 Feb;37(1):20-5. doi: 10.1053/j.semperi.2012.11.006. PMID: 23419759
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987

Therapy

Sezgin B, Sibar S, Findikcioglu K, Sencan A, Emmez H, Baykaner K, Ozmen S
J Wound Care 2017 Jun 2;26(6):342-345. doi: 10.12968/jowc.2017.26.6.342. PMID: 28598754
Kalina MA, Kalina-Faska B, Paprocka J, Jamroz E, Pyrkosz A, Marszał E, Małecka-Tendera E
Clin Genet 2010 Sep;78(3):227-35. Epub 2010 May 22 doi: 10.1111/j.1399-0004.2010.01470.x. PMID: 20560985
Rhee ST, Colville C, Buchman SR, Muraszko K
J Craniofac Surg 2002 Jul;13(4):497-500. doi: 10.1097/00001665-200207000-00003. PMID: 12140410

Prognosis

Kyriakou G, Gialeli E, Vryzaki E, Georgiou S
Acta Dermatovenerol Croat 2020 Dec;28(4):247-248. PMID: 33835001
Alzahem T, Alsalamah AK, Mura M, Alsulaiman SM
Ophthalmic Genet 2020 Aug;41(4):377-380. Epub 2020 Jun 5 doi: 10.1080/13816810.2020.1776339. PMID: 32498638
Dugan SL, Botto LD, Hedlund GL, Bale JF Jr
Semin Pediatr Neurol 2018 Jul;26:135-139. Epub 2017 Apr 2 doi: 10.1016/j.spen.2017.03.022. PMID: 29961505
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987
Whitley CB, Gorlin RJ
Am J Med Genet 1991 Sep 1;40(3):319-26. doi: 10.1002/ajmg.1320400315. PMID: 1951437

Clinical prediction guides

Meyer BI, Williams PJ, Hanif AM, Lenhart PD, Hubbard GB 3rd, Jain N
Retin Cases Brief Rep 2022 Nov 1;16(6):762-765. doi: 10.1097/ICB.0000000000001073. PMID: 33323896
Suarez E, Bertoli MJ, Eloy JD, Shah SP
BMC Anesthesiol 2021 Apr 15;21(1):117. doi: 10.1186/s12871-021-01339-0. PMID: 33858352Free PMC Article
Schnabel F, Kamphausen SB, Funke R, Kaulfuß S, Wollnik B, Zenker M
Am J Med Genet A 2021 Mar;185(3):850-855. Epub 2020 Dec 7 doi: 10.1002/ajmg.a.62009. PMID: 33283961
Chapman G, Moreau JLM, I P E, Szot JO, Iyer KR, Shi H, Yam MX, O'Reilly VC, Enriquez A, Greasby JA, Alankarage D, Martin EMMA, Hanna BC, Edwards M, Monger S, Blue GM, Winlaw DS, Ritchie HE, Grieve SM, Giannoulatou E, Sparrow DB, Dunwoodie SL
Hum Mol Genet 2020 Mar 13;29(4):566-579. doi: 10.1093/hmg/ddz270. PMID: 31813956Free PMC Article
Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS
Am J Hum Genet 2014 Sep 4;95(3):275-84. Epub 2014 Aug 14 doi: 10.1016/j.ajhg.2014.07.011. PMID: 25132448Free PMC Article

Recent systematic reviews

van Nisselrooij AEL, Herling L, Clur SA, Linskens IH, Pajkrt E, Rammeloo LA, Ten Harkel ADJ, Hazekamp MG, Blom NA, Haak MC
Prenat Diagn 2021 May;41(6):754-765. Epub 2021 Feb 26 doi: 10.1002/pd.5907. PMID: 33480066Free PMC Article

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