Polydactyly

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Retrieved

2019-09-22

Source

Omim

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GLI3, KIAA0586, IFT80, HOXD13, LMBR1, MKKS, DYNC2H1, MKS1, GLI2, BBS2, BHLHA9, BBS4, BBS10, B9D1, ARL6, IFT27, BBS7, CEP290, PIK3CA, LBR, TMEM231, SMO, TTC8, CEP41, DYNC2LI1, TMEM216, BBS9, EVC, GDF5, BBS12, OFD1, TCTN3, TRIM32, EBP, BBS1, TTC21B, SHH, PITX1, INPP5E, BMP4, KIF7, TWIST1, WDR60, TMEM67, NEK1, IFT88, MIPOL1, LZTFL1, PTEN, FGFR2, HNRNPK, CKAP2L, CEP120, NPHP3, IFT172, HYLS1, TBX22, TRAF3IP1, TCTEX1D2, C2CD3, ARMC8, GRIP1, FREM2, RPGRIP1L, CILK1, KIF3A, EVC2, IFT43, IFT52, ALX4, TCTN2, CPLANE1, FRAS1, TMEM237, PNPLA6, PORCN, B9D2, SMOC1, DDX59, BBS5, CC2D2A, SALL4, UBE3B, AHI1, RAB23, CSPP1, TMEM138, MBTPS2, ALX3, CEP164, FGF10, FGFR1, LRP4, PDE6D, WNT7A, HOXA13, TFAP2A, ZNF141, TBX3, ALMS1, TBX5, GPC3, FGFR3, USP9X, RBM10, TFAP2B, PIK3R2, CD96, SC5D, PROM1, CCND2, IFT140, SALL1, AKT3, MEGF8, SPINT2, CENPF, FAM92A, ZBTB16, WDR35, STAG2, CREBBP, WNT10B, OTX2, POU1F1, LHX4, TXNDC15, IFT74, CDCA7, CEP19, PTCH1, FBLN1, FAM98C, EP300, ZDHHC24, CRMP1, PROP1, ZRS, SUFU, INTU, PIGX, ZSWIM6, PUF60, PTCH2, HESX1, ADNP, TRAPPC3, SDCCAG8, GLI1, GATA6, DHCR7, STKLD1, IQCE, C8orf37, ELN, GGA2, PDSS1, CCN6, RRDX, GPC4, DYNLL1, DKK1, ANPEP, MGS, DEL11P13, FBXW11, BRD2, AGO2, KPNA4, SAG, PCBD1, PAX6, TGFB1, TGIF1, MME, SMAD4, TULP3, IL10, VSX1, ARMC9, HPD, WT1, RAB34, ZIC2, FOXA2, TMEM107, DISP1, UCN2

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A number sign (#) is used with this entry because of the large number of genetically distinct disorders in which polydactyly is an isolated anomaly or occurs in association with other anomalies.

Castilla et al. (1996) provided an epidemiologic analysis of rare polydactylies registered from a birth sample of over 4 million births aggregated from 2 comparable birth series: the Latin-American Collaborative Study of Congenital Malformations (ECLAMC) with 3,128,957 live and still births from 1967 to 1993; and the Spanish Collaborative Study of Congenital Malformations (ECEMC) with 1,093,856 live births from 1976 to 1993 and 7,271 still births from 1980 to 1993. All but 2 of 6,912 registered polydactyly cases fitted well into 1 of the following 11 preestablished polydactyly types (observed number of cases): postaxial hexadactyly (5,345); preaxial I hexadactyly (1,018); 7 or more digits (57); synpolydactyly (15); crossed polydactyly (45); first digit triphalangism (33); second digit duplication (39); third digit duplication (18); fourth digit duplication (22); Haas polysyndactyly (3); and high degree of duplication (4). The reported birth prevalence rates in the 2 series were similar except for postaxial polydactyly, which was more frequent in the ECLAMC (150.2/100,000) than in the ECEMC (67.4/100,000), as expected due to be the higher African black ethnic extraction of the South American than of the Spanish populations. The similar frequency for the rare polydactylies (5.4 and 5.7 per 100,000 in South America and in Spain, respectively) and for each of the 9 categories, suggested that the values reported are valid for most populations. The rare polydactylies were frequently syndromal: one-third of them (77/236) were found in association with other congenital anomalies, 11% (26/236) in multiple congenital anomaly (MCA) cases, and 21.6% (51/236) in recognized syndromes.

Castilla et al. (1998) performed an epidemiologic analysis of the association of polydactyly with other congenital anomalies in 5,927 consecutively born polydactyly cases. They were grouped into 3 categories: duplicated fifth digit, duplicated first digit, and rare polydactylies; also into isolated or associated groups, according to whether or not other birth defects were observed in the same infant. Associated cases were further subdivided into (1) combined, if the other defect was a limb defect; (2) syndromic, if the non-limb defect constituted a recognized causal or pathogenetic entity; and (3) MCA (multiple congenital anomalies), if a non-limb defect did not constitute a recognized entity. In 14.6% of the 5,927 polydactyly cases, polydactyly was not the only congenital anomaly. This proportion of associated anomalies was minimal for postaxial (11.8%), intermediate for preaxial I (20.0%), and maximal for rare polydactyly (54.9%). Duplication of the fifth toe plus syndactyly of fourth and fifth toes, as well as other syndactylies adjacent to the duplicated digit, was the most frequent type. Syndactyly of fourth and fifth toes was also combined with a duplicated fifth finger, suggesting the existence of an arrested or amputated in utero sixth toe. Polydactylies were rarely associated with other congenital anomalies except in recognizable syndromes; when syndromes were excluded, most of the significant positive associations disappeared. Trisomy 13, Meckel syndrome (249000), and Down syndrome (190685) explained 255 of the 338 syndromic polydactyly cases. Down syndrome was strongly associated with first-digit duplication, and negatively associated with postaxial polydactyly.

Biesecker (2002) compiled a list of 119 disorders with polydactyly as a feature. Cataloging the disorders by phenotype and genotype demonstrated numerous overlapping phenotypes, genetic heterogeneity of phenotypes, and distinct phenotypes generated from mutations in single genes. Thirty-nine of the disorders were associated with gene mutations, and among these, genotypic and phenotypic overlap was demonstrated.