Syndactyly type V (SDTY5) is an autosomal dominant extremity malformation characterized by fusion of the fourth and fifth metacarpals. In the previous publication, we first identified a heterozygous missense mutation Q50R in homeobox domain (HD) of HOXD13 in a large Chinese family with SDTY5. In order to substantiate the pathogenicity of the variant and elucidate the underlying pathogenic mechanism causing limb malformation, transcription-activator-like effector nucleases (TALEN) was employed to generate a Hoxd13Q50R mutant mouse. The mutant mice exhibited obvious limb malformations including slight brachydactyly and partial syndactyly between digits 2-4 in the heterozygotes, and severe syndactyly, brachydactyly and polydactyly in homozygotes. Focusing on BMP2 and SHH/GREM1/AER-FGF epithelial mesenchymal (e-m) feedback, a crucial signal pathway for limb development, we found the ectopically expressed Shh, Grem1 and Fgf8 and down-regulated Bmp2 in the embryonic limb bud at E10.5 to E12.5. A transcriptome sequencing analysis was conducted on limb buds (LBs) at E11.5, revealing 31 genes that exhibited notable disparities in mRNA level between the Hoxd13Q50R homozygotes and the wild-type. These genes are known to be involved in various processes such as limb development, cell proliferation, migration, and apoptosis. Our findings indicate that the ectopic expression of Shh and Fgf8, in conjunction with the down-regulation of Bmp2, results in a failure of patterning along both the anterior-posterior and proximal-distal axes, as well as a decrease in interdigital programmed cell death (PCD). This cascade ultimately leads to the development of syndactyly and brachydactyly in heterozygous mice, and severe limb malformations in homozygous mice. These findings suggest that abnormal expression of SHH, FGF8, and BMP2 induced by HOXD13Q50R may be responsible for the manifestation of human SDTY5.

To study the effectiveness of surgical treatment of congenital type V thumb syndactyly. Between March 2010 and May 2015, 12 cases of congenital type V thumb syndactyly were treated. There were 7 males and 5 females, aged from 1 to 25 years (mean, 8 years). The right thumb was involved in 8 cases, and the left thumb in 4 cases. There were 2 cases of radial type, and 10 cases of ulnar type. The basement of polydactylism was far away from the carpometacarpal joint in 7 cases, and was close to the carpometacarpal joint in 5 cases (slight ulnar deviation in 1 case). X-ray films showed that the main first thumb metacarpal bone and trapezium fitted well, and 2 cases had the first metacarpal bone deformity. Preoperative individualized treatment plan was made, and polydactylism was excised by the "S" or "Z" incision and simultaneous reconstruction of thenar muscle insertions or adductor muscle insertions was performed; if necessary, wedge osteotomy was used for correction. All incisions healed by first intention with no complication. All cases were followed up 6 to 24 months (mean, 12 months). The thumb appearance, flexion and extension, the function of opposition, abduction function were improved significantly in 11 cases with no scar contracture deformity, small first web space, and deviation deformity. One case had slightly narrow first web space. According to hand function criterion, the results were excellent in 10 cases, good in 1 case, poor in 1 case; excellent and good rate was 91.7%. Based on the condition of the type V thumb syndactyly, the individualized treatment plan is made, which can better restore the shape and function of the thumb. 探讨先天性V型复拇指畸形的手术治疗方法及疗效。. 2010年3月－2015年5月，收治12例先天性V型复拇指畸形患者。男7例，女5例；年龄1~25岁，平均8岁。左手4例，右手8例。桡侧为主型2例，尺侧为主型10例。7例赘生指基底远离腕掌关节，5例赘生指基底靠近腕掌关节（略尺偏1例）。X线片示主干拇指第1掌骨与大多角骨均对合良好，伴第1掌骨侧弯畸形2例。术前制定个体化治疗方案，作S形或Z形切口，切除赘生指，同时重建大鱼际肌止点或内收肌止点，必要时联合楔形截骨术矫形。. 术后患者切口均Ⅰ期愈合。术后12例均获随访，随访时间6~24个月，平均12个月。11例拇指外形、屈伸、对掌、外展功能均较术前改善，未出现瘢痕挛缩畸形、虎口区狭小及偏斜畸形等情况。1例虎口区略狭小，拇指外展不良，经再次“Z”字成形术后改善。末次随访时，根据中华医学会手外科分会上肢部分功能评定试用标准评定患指功能：优10例，良1例，差1例；优良率91.7%。. 根据V型复拇指畸形情况制定个体化手术方案，可较好恢复拇指外形及功能。.

Kidney diseases are becoming a major cause of global burden with high mortality and morbidity. The origins of most kidney diseases are known, but for some the exact aetiology is not yet understood. Dermatoglyphics is the scientific study of epidermal ridge patterns and it has been used as a non-invasive diagnostic tool to detect or predict different medical conditions that have foetal origin. However, there have been a limited number of studies that have evaluated a dermatoglyphic relationship in different kidney diseases. The aim of this review was to systematically identify, review and appraise available literature that evaluated an association of different dermatoglyphic variables with kidney diseases. This review is reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist. The PubMed(®) (Medline), POPLINE, Cochrane Library and Trip Database and grey literature sources such as OpenGrey, Google Scholar, and Google were searched to earliest date to 17 April 2014. Of the 36 relevant publications, 15 were included in the review. Of these studies, there are five case reports, seven case series and three comparative studies. Possible association of dermatoglyphics with Wilms tumor (WT) had been evaluated in two comparative studies and one case series that found fewer whorls and a lower mean total ridge count (TRC). Another study evaluated adult polycystic kidney disease (APCD) type III that revealed lower TRC means in all cases. All other case series and case reports describe dermatoglyphics in various kidney disease such as acro-renal-ocular syndrome, potter syndrome, kabuki makeup syndrome, neurofaciodigitorenal syndrome, syndactyly type V, ring chromosome 13 syndrome, trisomy 13 syndrome and sirenomelia. It is evident that whorl pattern frequency and TRC have been used widely to investigate the uncertainty related to the origin of several kidney diseases such as WT and APCD type III. However, small sample sizes, possibly methodological issues, and discrepancy in the make up between cases and control groups limits interpretation of any significant findings. Future studies with proper protocol, adequate cases, and control groups may provide stronger evidence to resolve uncertainty related to the aetiology of kidney diseases.