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Synpolydactyly 2(SPD2)

MedGen UID:
331290
Concept ID:
C1842422
Disease or Syndrome
Synonyms: SPD2; SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): FBLN1 (22q13.31)
OMIM®: 608180
Orphanet: ORPHA295197

Clinical features

Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital abnormality characterized by more than 5 digits on a hand or foot.
Tarsal synostosis
MedGen UID:
539393
Concept ID:
C0265654
Congenital Abnormality
Congenital, complete or partial fusion of the TARSAL BONES of the foot. PES PLANUS is usually a feature.
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Carpal synostosis
MedGen UID:
98468
Concept ID:
C0431863
Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
Metatarsal synostosis
MedGen UID:
349573
Concept ID:
C1862697
Finding
Metacarpal synostosis
MedGen UID:
867040
Concept ID:
C4021398
Anatomical Abnormality
Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital abnormality characterized by more than 5 digits on a hand or foot.
Tarsal synostosis
MedGen UID:
539393
Concept ID:
C0265654
Congenital Abnormality
Congenital, complete or partial fusion of the TARSAL BONES of the foot. PES PLANUS is usually a feature.
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Carpal synostosis
MedGen UID:
98468
Concept ID:
C0431863
Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
Metatarsal synostosis
MedGen UID:
349573
Concept ID:
C1862697
Finding
Metacarpal synostosis
MedGen UID:
867040
Concept ID:
C4021398
Anatomical Abnormality
Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSynpolydactyly 2
Follow this link to review classifications for Synpolydactyly 2 in Orphanet.

Recent clinical studies

Etiology

Wang B, Li N, Geng J, Wang Z, Fu Q, Wang J, Xu Y
Congenit Anom (Kyoto) 2017 Jan;57(1):4-7. doi: 10.1111/cga.12173. PMID: 27254532
Wall LB, Bae DS, Oishi SN, Calfee RP, Goldfarb CA
J Hand Surg Eur Vol 2016 Mar;41(3):301-7. Epub 2015 Aug 12 doi: 10.1177/1753193415598281. PMID: 26269507
Sahin O, Kuru I, Akgun RC, Sahin BS, Canbeyli ID, Tuncay IC
Bone Joint J 2013 Jul;95-B(7):929-34. doi: 10.1302/0301-620X.95B7.31708. PMID: 23814245
Xin Q, Li L, Li J, Qiu R, Guo C, Gong Y, Liu Q
Gene 2012 May 10;499(1):48-51. Epub 2012 Mar 3 doi: 10.1016/j.gene.2012.02.046. PMID: 22406499
Gong L, Wang B, Wang J, Yu H, Ma X, Yang J
Eur J Med Genet 2011 Mar-Apr;54(2):108-11. Epub 2010 Oct 23 doi: 10.1016/j.ejmg.2010.10.007. PMID: 20974300

Diagnosis

Wang B, Li N, Geng J, Wang Z, Fu Q, Wang J, Xu Y
Congenit Anom (Kyoto) 2017 Jan;57(1):4-7. doi: 10.1111/cga.12173. PMID: 27254532
Ibrahim DM, Tayebi N, Knaus A, Stiege AC, Sahebzamani A, Hecht J, Mundlos S, Spielmann M
Am J Med Genet A 2016 Mar;170(3):615-21. Epub 2015 Nov 18 doi: 10.1002/ajmg.a.37464. PMID: 26581570
Brison N, Tylzanowski P, Debeer P
Eur J Med Genet 2012 Jan;55(1):1-7. Epub 2011 Jul 2 doi: 10.1016/j.ejmg.2011.06.003. PMID: 21782042
Sugiura Y, Lenz W
Am J Med Genet 1999 Apr 23;83(5):353-5. PMID: 10232741

Therapy

Kuss P, Kraft K, Stumm J, Ibrahim D, Vallecillo-Garcia P, Mundlos S, Stricker S
Dev Biol 2014 Jan 1;385(1):83-93. Epub 2013 Oct 23 doi: 10.1016/j.ydbio.2013.10.013. PMID: 24161848
Kuss P, Villavicencio-Lorini P, Witte F, Klose J, Albrecht AN, Seemann P, Hecht J, Mundlos S
J Clin Invest 2009 Jan;119(1):146-56. Epub 2008 Dec 15 doi: 10.1172/JCI36851. PMID: 19075394Free PMC Article

Prognosis

Sahin O, Kuru I, Akgun RC, Sahin BS, Canbeyli ID, Tuncay IC
Bone Joint J 2013 Jul;95-B(7):929-34. doi: 10.1302/0301-620X.95B7.31708. PMID: 23814245
Brison N, Tylzanowski P, Debeer P
Eur J Med Genet 2012 Jan;55(1):1-7. Epub 2011 Jul 2 doi: 10.1016/j.ejmg.2011.06.003. PMID: 21782042
Grier DG, Thompson A, Kwasniewska A, McGonigle GJ, Halliday HL, Lappin TR
J Pathol 2005 Jan;205(2):154-71. doi: 10.1002/path.1710. PMID: 15643670
Kan SH, Johnson D, Giele H, Wilkie AO
Am J Med Genet A 2003 Aug 15;121A(1):69-74. doi: 10.1002/ajmg.a.20103. PMID: 12900906

Clinical prediction guides

Wall LB, Bae DS, Oishi SN, Calfee RP, Goldfarb CA
J Hand Surg Eur Vol 2016 Mar;41(3):301-7. Epub 2015 Aug 12 doi: 10.1177/1753193415598281. PMID: 26269507
Wang B, Xu B, Cheng Z, Zhou X, Wang J, Yang G, Cheng L, Yang J, Ma X
Clin Chim Acta 2012 Jul 11;413(13-14):1049-52. Epub 2012 Feb 22 doi: 10.1016/j.cca.2012.02.015. PMID: 22374128
Brison N, Tylzanowski P, Debeer P
Eur J Med Genet 2012 Jan;55(1):1-7. Epub 2011 Jul 2 doi: 10.1016/j.ejmg.2011.06.003. PMID: 21782042
Malik S, Girisha KM, Wajid M, Roy AK, Phadke SR, Haque S, Ahmad W, Koch MC, Grzeschik KH
BMC Med Genet 2007 Dec 11;8:78. doi: 10.1186/1471-2350-8-78. PMID: 18072967Free PMC Article
Malik S, Abbasi AA, Ansar M, Ahmad W, Koch MC, Grzeschik KH
Clin Genet 2006 Jun;69(6):518-24. doi: 10.1111/j.1399-0004.2006.00620.x. PMID: 16712704

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