syndactyly

Summary

Summary: A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.

Top Publications

  1. Böse K, Nischt R, Page A, Bader B, Paulsson M, Smyth N. Loss of nidogen-1 and -2 results in syndactyly and changes in limb development. J Biol Chem. 2006;281:39620-9 pubmed
    ..distribution of growth factors, such as fibroblast growth factors and leads to a fully penetrant soft tissue syndactyly caused by the dysregulation of interdigital apoptosis...
  2. Johnson E, Steffen D, Lynch K, Herz J. Defective splicing of Megf7/Lrp4, a regulator of distal limb development, in autosomal recessive mulefoot disease. Genomics. 2006;88:600-9 pubmed
    Mulefoot disease (MFD) is an autosomal recessive disorder of phenotypically variable expression that causes syndactyly in certain strains of cows...
  3. Jain M, Wallis D, Robin N, De Vrieze F, Hardy J, Ghadami M, et al. Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?. Am J Med Genet A. 2008;146A:2308-11 pubmed publisher
  4. Percin E, Percin S. Two unusual types of syndactyly in the same family; Cenani-Lenz type and "new" type versus severe type I syndactyly?. Genet Couns. 2003;14:313-9 pubmed
    Cenani-Lenz syndactyly is a very rare syndrome where the syndactyly is totally disorganized with abnormal development of pattern formation of the hand...
  5. DuChesne A, Gautier M, Chadi S, Grohs C, Floriot S, Gallard Y, et al. Identification of a doublet missense substitution in the bovine LRP4 gene as a candidate causal mutation for syndactyly in Holstein cattle. Genomics. 2006;88:610-21 pubmed
    b>Syndactyly in Holstein cattle is an autosomal recessive abnormality characterized by the fusion of the functional digits. This disorder has been previously mapped to the telomeric part of bovine chromosome 15...
  6. Balk K, Biesecker L. The clinical atlas of Greig cephalopolysyndactyly syndrome. Am J Med Genet A. 2008;146A:548-57 pubmed publisher
    ..The syndrome typically includes preaxial or mixed pre- and postaxial polydactyly and cutaneous syndactyly, ocular hypertelorism, and macrocephaly in its typical forms, but sometimes includes hydrocephalus, seizures, ..
  7. Garavelli L, Pedori S, Dal Zotto R, Franchi F, Marinelli M, Croci G, et al. Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review. Genet Couns. 2006;17:449-55 pubmed
    ..To date, 33 cases from 19 families have been reported. We present an Italian case of anophthalmia with limb anomalies and a renal malformation, which has never been described in the literature...
  8. Malik S, Ahmad W, Grzeschik K, Koch M. A simple method for characterising syndactyly in clinical practice. Genet Couns. 2005;16:229-38 pubmed
    Non-syndromic syndactyly is a heterogeneous group of limb malformations involving webbing of fingers and/or toes. There are at least nine non-syndromic types described in the literature...
  9. Jelani M, Chishti M, Ahmad W. Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1). J Hum Genet. 2011;56:352-7 pubmed publisher
    Ectodermal-dysplasia-syndactyly syndrome (EDSS1) is a rare form of ectodermal dysplasia (ED), affecting skin and its appendages mainly hair, teeth and nails...

More Information

Publications65

  1. Flenniken A, Osborne L, Anderson N, Ciliberti N, Fleming C, Gittens J, et al. A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia. Development. 2005;132:4375-86 pubmed
    ..screen, we identified a dominant mouse mutation that exhibits many classic symptoms of ODDD, including syndactyly, enamel hypoplasia, craniofacial anomalies and cardiac dysfunction...
  2. Yazawa M, Hsueh B, Jia X, Pasca A, Bernstein J, Hallmayer J, et al. Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. Nature. 2011;471:230-4 pubmed publisher
    ..This study provides new opportunities for studying the molecular and cellular mechanisms of cardiac arrhythmias in humans, and provides a robust assay for developing new drugs to treat these diseases...
  3. van Es R, Wittebol Post D, Beemer F. Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene. Int J Oral Maxillofac Surg. 2007;36:858-60 pubmed
    ..and ophthalmological involvement with mandibular retrognathism, and by the absence of cutaneous hand or foot syndactyly. A novel single-sequence variation (Nt460A>G) in exon 2, resulting in the substitution of alanine for ..
  4. Schwabe G, Mundlos S. Genetics of congenital hand anomalies. Handchir Mikrochir Plast Chir. 2004;36:85-97 pubmed
    ..We present an overview of congenital limb malformations based on an anatomic and genetic concept reflecting recent molecular and developmental insights...
  5. Musa F, Ratajczak P, Sahu J, Pentlicky S, Fryer A, Richard G, et al. Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). Eye (Lond). 2009;23:549-55 pubmed publisher
    ..To characterize the ophthalmic findings, intrafamilial variability, and molecular genetic basis of oculodentodigital dysplasia (ODDD; MIM no. 164200)...
  6. Ikegawa M, Han H, Okamoto A, Matsui R, Tanaka M, Omi N, et al. Syndactyly and preaxial synpolydactyly in the single Sfrp2 deleted mutant mice. Dev Dyn. 2008;237:2506-17 pubmed publisher
    ..Here we showed the single Sfrp2 inactivation in mice resulted in syndactyly and preaxial synpolydactyly, predominantly in the hindlimbs. Tails were often kinked...
  7. Dauwerse J, de Vries B, Wouters C, Bakker E, Rappold G, Mortier G, et al. A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome. Eur J Hum Genet. 2007;15:743-51 pubmed
    Here, we report a patient with a novel brachydactyly-syndactyly syndrome and a de novo translocation 46,XY,t(4;6)(q12;p23). We mapped the breakpoint and identified genes in the breakpoint region...
  8. Thomeer H, Admiraal R, Hoefsloot L, Kunst H, Cremers C. Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations. Otol Neurotol. 2011;32:632-8 pubmed publisher
    ..To report on 2 families with proximal symphalangism syndrome and 2 new NOG gene mutations and to report on the outcomes of exploratory tympanotomy...
  9. Sun M, Ma F, Zeng X, Liu Q, Zhao X, Wu F, et al. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. J Med Genet. 2008;45:589-95 pubmed publisher
    ..Triphalangeal thumb-polysyndactyly syndrome (TPTPS) and syndactyly type IV (SD4) were also mapped to the 7q36 region but pathogenic mutations in ZRS have not yet been affirmed.
  10. Morello R, Bertin T, Schlaubitz S, Shaw C, Kakuru S, Munivez E, et al. Brachy-syndactyly caused by loss of Sfrp2 function. J Cell Physiol. 2008;217:127-37 pubmed publisher
    ..In addition, there is soft-tissue syndactyly of the hindlimb...
  11. Dai L, Li N, Deng Y, Mao M, Wang H, Zhu J. [Genotype-phenotype analysis of a Chinese family with split hand/split foot and syndactyly]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011;28:379-82 pubmed publisher
    ..To determine the causative gene mutation in a Chinese family with split hand/split foot malformation (SHFM) and explore the genotype-phenotype relationship...
  12. Simon Chazottes D, Tutois S, Kuehn M, Evans M, Bourgade F, Cook S, et al. Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse. Genomics. 2006;87:673-7 pubmed
  13. Huang T, Shao Q, Macdonald A, Xin L, Lorentz R, Bai D, et al. Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. J Cell Sci. 2013;126:2857-66 pubmed publisher
  14. Weekamp H, Kremer H, Hoefsloot L, Kuijpers Jagtman A, Cruysberg J, Cremers C. Teunissen-Cremers syndrome: a clinical, surgical, and genetic report. Otol Neurotol. 2005;26:38-51 pubmed
    ..To describe clinical and radiologic features, results of ear surgery, and genetic analysis in three families with Teunissen-Cremers syndrome...
  15. Johnston J, Olivos Glander I, Killoran C, Elson E, Turner J, Peters K, et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005;76:609-22 pubmed
    ..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis...
  16. Etheridge S, Bowles N, Arrington C, Pilcher T, Rope A, Wilde A, et al. Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. Am J Med Genet A. 2011;155A:2578-83 pubmed publisher
  17. Shao Q, Liu Q, Lorentz R, Gong X, Bai D, Shaw G, et al. Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia. Mol Biol Cell. 2012;23:3312-21 pubmed publisher
    ..Collectively, these studies suggest that the nature of the mutation conveys loss of Cx43 function by distinctly different mechanisms that are rooted in the structure of the N-terminal region...
  18. Richardson R, Donnai D, Meire F, Dixon M. Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet. 2004;41:60-7 pubmed
  19. Mendoza Londono R, Kashork C, Shaffer L, Krance R, Plon S. Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes. Genes Chromosomes Cancer. 2005;42:82-6 pubmed
    ..features consistent with GCPS, including a prominent forehead, down-slanting palpebral fissures, 1-2-3 toe syndactyly, broad thumbs and first toes, and mild developmental delay. He had developed ALL at 5 years of age...
  20. Drogemuller C, Distl O. Genetic analysis of syndactyly in German Holstein cattle. Vet J. 2006;171:120-5 pubmed
    Congenital syndactyly with a variable number of affected feet was observed in eight black and white German Holstein calves. Analysis of the pedigree data revealed that all affected individuals could be traced back to a single founder...
  21. Malik S, Grzeschik K. Synpolydactyly: clinical and molecular advances. Clin Genet. 2008;73:113-20 pubmed publisher
    Synpolydactyly (SPD) is a rare limb deformity showing a distinctive combination of syndactyly and polydactyly. Of the nine non-syndromic syndactylies, it is clinically and genetically one of the most heterogeneous malformation...
  22. Luo T, Yu W, Yuan Z, Deng Y, Zhao Y, Yuan W, et al. A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism. Mutat Res. 2008;637:182-9 pubmed
    ..SSCP analysis of the segregation pattern of the mutation strongly suggests a causal relationship to the SHFM phenotype in p63. This mutation has not been observed in other countries in the world...
  23. Kuss P, Villavicencio Lorini P, Witte F, Klose J, Albrecht A, Seemann P, et al. Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. J Clin Invest. 2009;119:146-56 pubmed publisher
    ..Thus, we propose that mutated Hoxd13 causes polydactyly in SPD by inducing extraneous interdigital chondrogenesis, both directly and indirectly, via a reduction in RA levels...
  24. Sato D, Liang D, Wu L, Pan Q, Xia K, Dai H, et al. A syndactyly type IV locus maps to 7q36. J Hum Genet. 2007;52:561-4 pubmed
    b>Syndactyly occurs as an isolated abnormality or a part of a malformation syndrome. Syndactyly types I, II, III and V have been mapped to chromosomal regions 2q34-q36, 2q31-q32, 6q21-q23...
  25. Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, et al. Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am J Med Genet A. 2003;120A:49-58 pubmed
    ..In a branch of the family, the GCPS phenotype skips a generation via a normal female carrier without clinical signs providing evidence that GCPS does not always manifest full penetrance as generally supposed...
  26. Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, Seemann P, et al. Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet. 2011;88:70-5 pubmed publisher
    ..that copy-number variations of the IHH locus involving conserved noncoding elements (CNEs) are associated with syndactyly and craniosynostosis...
  27. Lo A Njoe S, Wilde A, van Erven L, Blom N. Syndactyly and long QT syndrome (CaV1.2 missense mutation G406R) is associated with hypertrophic cardiomyopathy. Heart Rhythm. 2005;2:1365-8 pubmed
  28. Malik S, Percin F, Ahmad W, Percin S, Akarsu N, Koch M, et al. Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3. Am J Med Genet A. 2005;134:404-8 pubmed
    Previously we have described a novel and distinct form of non-syndromic osseous syndactyly segregating in an autosomal recessive pattern in a consanguineous Pakistani family...
  29. van Haelst M, Scambler P, Hennekam R. Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet A. 2007;143A:3194-203 pubmed
    Fraser syndrome is an autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defects...
  30. Jadeja S, Smyth I, Pitera J, Taylor M, van Haelst M, Bentley E, et al. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet. 2005;37:520-5 pubmed
    Fraser syndrome is a recessive, multisystem disorder presenting with cryptophthalmos, syndactyly and renal defects and associated with loss-of-function mutations of the extracellular matrix protein FRAS1...
  31. Unger S, Böhm D, Kaiser F, Kaulfuss S, Borozdin W, Buiting K, et al. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat Genet. 2008;40:287-9 pubmed publisher
    ..Toe syndactyly, telecanthus and anogenital and renal malformations were present in all affected individuals; thus, we propose ..
  32. Gillis J, Burashnikov E, Antzelevitch C, Blaser S, Gross G, Turner L, et al. Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. Am J Med Genet A. 2012;158A:182-7 pubmed publisher
    ..with prolonged QT interval and associated polymorphic ventricular tachycardia, dysmorphic facial features, syndactyly of the hands and feet, and joint contractures, suggestive of TS...
  33. Wohlke A, Kuiper H, Distl O, Drogemuller C. The bovine aristaless-like homeobox 4 (ALX4) as a candidate gene for syndactyly. Cytogenet Genome Res. 2006;115:123-8 pubmed
    ..The ALX4 gene was evaluated as a candidate gene for bovine syndactyly which has been mapped on the telomeric region of cattle chromosome 15...
  34. Kan S, Johnson D, Giele H, Wilkie A. An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. Am J Med Genet A. 2003;121A:69-74 pubmed
    ..are typically associated with synpolydactyly characterized by insertional digit duplication associated with syndactyly. We screened for mutations of HOXD13 in patients with a variety of limb malformations and identified a novel ..
  35. Lv D, Luo Y, Yang W, Cao L, Wen Y, Zhao X, et al. A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. J Hum Genet. 2009;54:422-5 pubmed publisher
    ..In a large Chinese family with a limb phenotype, consisting of atypical BDB1 and cutaneous syndactyly of varying degrees, we performed a two-point linkage analysis using microsatellite markers on 2q33-q37 and 9q22...
  36. Luo J, Fu C, Yao K, Hu R, DU Q, Liu Z. [A case-control study on genetic and environmental factors regarding polydactyly and syndactyly]. Zhonghua Liu Xing Bing Xue Za Zhi. 2009;30:903-6 pubmed
    To explore the genetic and environmental factors related to the development of polydactyly and syndactyly, and to provide evidence for prevention on birth defects.
  37. Bader P, Faizi M, Kim L, Owen S, Tadross M, Alfa R, et al. Mouse model of Timothy syndrome recapitulates triad of autistic traits. Proc Natl Acad Sci U S A. 2011;108:15432-7 pubmed publisher
    ..Our results suggest that when TS mutant channels are expressed at levels low enough to avoid fatality, they are sufficient to cause multiple, distinct behavioral abnormalities, in line with the core aspects of ASD...
  38. Malik S, Arshad M, Amin Ud Din M, Oeffner F, Dempfle A, Haque S, et al. A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin. Am J Med Genet A. 2004;126A:61-7 pubmed
    ..Type VII, the Cenani-Lenz syndactyly, is the only non-syndromic, autosomal recessive type...
  39. Zhao X, Sun M, Zhao J, Leyva J, Zhu H, Yang W, et al. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet. 2007;80:361-71 pubmed
    ..We describe two large Han Chinese families with different limb malformations, one with syndactyly type V and the other with limb features overlapping brachydactyly types A4, D, and E and mild syndactyly of toes ..
  40. Impallomeni M, Subramanian D, Mahmood N, Illes J, Joseph I. Fraser syndrome in a 96-year-old female. Age Ageing. 2006;35:642-3 pubmed
    ..The main features are cryptophthalmos, ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital system, lungs, liver and central nervous system (CNS)...
  41. Dobrowolski R, Sommershof A, Willecke K. Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels. J Membr Biol. 2007;219:9-17 pubmed
    ..ODDD) is a dominantly inherited human disorder associated with different symptoms like craniofacial anomalies, syndactyly and heart dysfunction...
  42. Dai L, Guo H, Meng H, Zhang K, Hu H, Yao H, et al. Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature. Eur J Pediatr. 2013;172:1467-73 pubmed publisher
    b>Syndactyly type IV (SD4) is inherited in an autosomal dominant fashion and characterized by complete cutaneous syndactyly of all fingers accompanied with polydactyly...
  43. Malik S. Syndactyly: phenotypes, genetics and current classification. Eur J Hum Genet. 2012;20:817-24 pubmed publisher
    b>Syndactyly is one of the most common hereditary limb malformations depicting the fusion of certain fingers and/or toes. It may occur as an isolated entity or a component of more than 300 syndromic anomalies...
  44. Malik S, Schott J, Ali S, Oeffner F, Amin Ud Din M, Ahmad W, et al. Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31. Eur J Hum Genet. 2005;13:1268-74 pubmed
    There is good evidence from the medical literature that type I syndactyly, the most common form of the nonsyndromic syndactylies, is clinically heterogeneous...
  45. Horsnell K, Ali M, Malik S, Wilson L, Hall C, Debeer P, et al. Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion. Eur J Med Genet. 2006;49:396-401 pubmed
    ..These cases illustrate the distinct phenotype associated with homozygosity for a HOXD13 mutation and also highlight the importance of considering homozygosity for a dominant mutation in consanguineous pedigrees...
  46. Johnston J, Walker R, Davis S, Facio F, Turner J, Bick D, et al. Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes. J Med Genet. 2007;44:e59 pubmed
    ..We suggest that high-density CGH array analysis should replace FISH analysis for assessment of deletions and duplications in patients with contiguous gene syndromes caused by variable deletions...
  47. Ota S, Zhou Z, Keene D, Knoepfler P, Hurlin P. Activities of N-Myc in the developing limb link control of skeletal size with digit separation. Development. 2007;134:1583-92 pubmed
    ..of N-Myc (Mycn) in the developing mouse limb leads to uniformly small skeletal elements and profound soft-tissue syndactyly. The small skeletal elements are associated with decreased proliferation of limb bud mesenchyme and small ..
  48. Drogemuller C, Leeb T, Harlizius B, Tammen I, Distl O, Höltershinken M, et al. Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4). BMC Genet. 2007;8:5 pubmed
    Isolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds...
  49. Johnson E, Hammer R, Herz J. Abnormal development of the apical ectodermal ridge and polysyndactyly in Megf7-deficient mice. Hum Mol Genet. 2005;14:3523-38 pubmed
    ..A similar autosomal recessive defect may also occur in man, where polysyndactyly, in combination with craniofacial abnormalities, is also part of a common genetic syndrome...
  50. Shah D, Baez Escudero J, Weisberg I, Beshai J, Burke M. Ranolazine safely decreases ventricular and atrial fibrillation in Timothy syndrome (LQT8). Pacing Clin Electrophysiol. 2012;35:e62-4 pubmed publisher
    ..This case report details the decrease of atrial fibrillation and ventricular fibrillation events in our LQT8 patient with the addition of ranolazine...
  51. Paşca S, Portmann T, Voineagu I, Yazawa M, Shcheglovitov A, Pasca A, et al. Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat Med. 2011;17:1657-62 pubmed publisher
    ..These findings provide strong evidence that Ca(v)1.2 regulates the differentiation of cortical neurons in humans and offer new insights into the causes of autism in individuals with Timothy syndrome...
  52. Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene Stambouli O, et al. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Am J Hum Genet. 2010;87:265-73 pubmed publisher
    ..The combination of hair and tooth abnormalities, alopecia, and cutaneous syndactyly is characteristic of ectodermal dysplasia-syndactyly syndrome (EDSS)...
  53. Harpf C, Pavelka M, Hussl H. A variant of Cenani-Lenz syndactyly (CLS): review of the literature and attempt of classification. Br J Plast Surg. 2005;58:251-7 pubmed
    An oligodactylous variant of Cenani-Lenz syndactyly and its surgical treatment is presented...
  54. Amador C, Mathews A, Del Carmen Montoya M, Laughridge M, Everman D, Holden K. Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. J Child Neurol. 2008;23:901-5 pubmed publisher
    ..These findings expand the neurologic phenotype and prognosis and underscore the importance of counseling families with oculodentodigital dysplasia about the possibility of neurologic involvement...
  55. Ghoumid J, Andrieux J, Sablonniere B, Odent S, Philippe N, Zanlonghi X, et al. Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus. Eur J Hum Genet. 2011;19:1198-201 pubmed publisher
    ..Here, we describe a father and a daughter presenting a 3-4 hand bilateral syndactyly associated with a nystagmus. Array-comparative genomic hybridisation showed a 3.8?Mb duplication at 2q31.1-q31...
  56. Malik S, Abbasi A, Ansar M, Ahmad W, Koch M, Grzeschik K. Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12. Clin Genet. 2006;69:518-24 pubmed
    b>Syndactyly type II or synpolydactyly (SPD) is the second most frequent syndactyly type and is inherited in an autosomal dominant fashion...