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Preaxial polydactyly-colobomata-intellectual disability syndrome

MedGen UID:
444110
•Concept ID:
C2931655
•
Disease or Syndrome
Synonym: Pfeiffer Mayer syndrome
SNOMED CT: Preaxial polydactyly, colobomata, intellectual disability syndrome (733088002); Pfeiffer Mayer syndrome (733088002)
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).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017377
Orphanet: ORPHA2921

Definition

Syndrome with characteristics of growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of siblings (brother and sister). The mode of transmission is thought to be autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPreaxial polydactyly-colobomata-intellectual disability syndrome
Follow this link to review classifications for Preaxial polydactyly-colobomata-intellectual disability syndrome in Orphanet.

Recent clinical studies

Etiology

Human facial dysostoses.
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775
Cerebral malformations in Carpenter syndrome.
Taravath S, Tonsgard JH
Pediatr Neurol 1993 May-Jun;9(3):230-4. doi: 10.1016/0887-8994(93)90092-q. PMID: 8352858
Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.
Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M
Am J Med Genet 1993 Oct 1;47(5):660-78. doi: 10.1002/ajmg.1320470517. PMID: 8266994

Diagnosis

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Strong A, Diderich KEM, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Briceño I, Gómez A, Deb W, Conrad S, Besnard T, Bézieau S, Krüger E, Küry S, Stankiewicz P
Genet Med 2022 Jan;24(1):179-191. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.09.005. PMID: 34906456
MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY.
Krajewska-Walasek M, Kugaudo M, Jędrzejowska M, Cieślikowska A, Ichkou A, Attié-Bitach T, Jezela-Stanek A
Genet Couns 2015;26(2):171-9. PMID: 26349186
Townes-Brocks syndrome.
Powell CM, Michaelis RC
J Med Genet 1999 Feb;36(2):89-93. PMID: 10051003Free PMC Article
A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies.
Temtamy SA, Meguid NA, Ismail SI, Ramzy MI
Clin Dysmorphol 1998 Oct;7(4):249-55. doi: 10.1097/00019605-199810000-00003. PMID: 9823490
Apert syndrome with partial preaxial polydactyly.
Lefort G, Sarda P, Humeau C, Rieu D
Genet Couns 1992;3(2):107-9. PMID: 1642807

Prognosis

Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A.
Enokizono T, Ohto T, Tanaka R, Tanaka M, Suzuki H, Sakai A, Imagawa K, Fukushima H, Iwabuti A, Fukushima T, Sumazaki R, Uehara T, Takenouchi T, Kosaki K
Am J Med Genet A 2017 Oct;173(10):2821-2825. Epub 2017 Aug 16 doi: 10.1002/ajmg.a.38405. PMID: 28815892
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.
Schoner K, Bald R, Horn D, Rehder H, Kornak U, Ehmke N
Am J Med Genet A 2017 Jun;173(6):1694-1697. Epub 2017 Apr 19 doi: 10.1002/ajmg.a.38209. PMID: 28422407
Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.
Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C
Am J Med Genet A 2016 Mar;170(3):717-24. Epub 2015 Nov 21 doi: 10.1002/ajmg.a.37478. PMID: 26590955
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.
Sher G, Naeem M
Eur J Med Genet 2014 Jan;57(1):21-4. Epub 2013 Nov 20 doi: 10.1016/j.ejmg.2013.11.001. PMID: 24269551
Cerebral malformations in Carpenter syndrome.
Taravath S, Tonsgard JH
Pediatr Neurol 1993 May-Jun;9(3):230-4. doi: 10.1016/0887-8994(93)90092-q. PMID: 8352858

Clinical prediction guides

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Strong A, Diderich KEM, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Briceño I, Gómez A, Deb W, Conrad S, Besnard T, Bézieau S, Krüger E, Küry S, Stankiewicz P
Genet Med 2022 Jan;24(1):179-191. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.09.005. PMID: 34906456
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.
Sher G, Naeem M
Eur J Med Genet 2014 Jan;57(1):21-4. Epub 2013 Nov 20 doi: 10.1016/j.ejmg.2013.11.001. PMID: 24269551
Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism.
Vásquez-Velásquez AI, García-Castillo HA, González-Mercado MG, Dávalos IP, Raca G, Xu X, Dwyer E, Rivera H
Cytogenet Genome Res 2011;132(4):233-8. Epub 2010 Nov 10 doi: 10.1159/000321647. PMID: 21063078
Laurin-Sandrow syndrome with additional associated manifestations.
Kantaputra PN
Am J Med Genet 2001 Jan 22;98(3):210-5. doi: 10.1002/1096-8628(20010122)98:3<210::aid-ajmg1085>3.0.co;2-7. PMID: 11169557
Cerebral malformations in Carpenter syndrome.
Taravath S, Tonsgard JH
Pediatr Neurol 1993 May-Jun;9(3):230-4. doi: 10.1016/0887-8994(93)90092-q. PMID: 8352858

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