Dorsal dimelia (appearance of dorsal structures on the palmar aspect of the hand) and ventral dimelia (appearance of palmar structures on the dorsal aspect of the hand) are rare congenital hand malformations that occur due to errors of the dorso-ventral axis of development of the limb. The current literature includes numerous cases and there is now sufficient basic science/genetics research on the topic so that a classification of dorsal/ventral dimelia could be proposed. Dorsal dimelia is subclassified into two types: distal (dorsalization of the digits ± distal palm) and proximal (dorsalization of the proximal palm only) types. Ventral dimelia is classified into three types (mild, moderate, and severe) according to the degree of ventralization. The classification is supported by the genetic basis of each subtype.
AhnKMishinaYHanksMCBehringerRRCrenshawEB. BMPR-1A signaling is required for the formation of the apical ectodermal ridge dorsal-ventral patterning of the limb. Development. 2001, 128: 4449–61.
2.
Al-QattanMM. Congenital duplication of the palm in a patient with multiple anomalies. J Hand Surg Br. 2003, 28: 276–9.
3.
Al-QattanMM. On the emerging evidence of a new category of duplication in the human hand: the dorsoventral duplication. Plast Reconstr Surg. 2004, 114: 1233–7.
4.
Al-QattanMM. Dorsal dimelia of the index finger in a patient with absent thumb and radial cub hand. Ann Plast Surg. 2011a, 67: 90–1.
5.
Al-QattanMM. WNT pathways and upper limb anomalies. J Hand Surg Eur. 2011b; 36: 9–22.
6.
Al-QattanMM. Fancani anemia with concurrent thumb polydactyly and dorsal dimelia. A case report with discussion of embryology. Ann Plast Surg. 2013, 70: 116–8.
7.
Al-QattanMM. Molecular basis of the clinical features of Al-Awadi-Raas–Rothschild (limb/pelvis/uterus-hypoplasia/aplasia syndrome) (AARRS) and Fuhrmann syndrome. Am J Med Genet (in press).
8.
Al-QattanMMAl-BalwiMEyaidWAl-AbdulkarimIAl-TurkiS. Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features. J Hand Surg Eur. 2009a, 34: 247–51.
9.
Al-QattanMMAl-MazyadMShamseldinHAl-KurayaFS. Dorsal dimelia: report of two cases with an emphasis on the variation of phenotypic expression and a search for candidate causative genes. J Hand Surg Eur. 2010, 35: 715–20.
10.
Al-QattanMMAl-RabeeahA. Similarities between a conjoined nail and the palmar nail syndrome. J Hand Surg Br. 2000, 25: 8–10.
11.
Al-QattanMMEyaidWAl-BalwiM. Congenital duplication of the palm syndrome. Ann Plast Surg. 2007, 59: 341–3.
12.
Al-QattanMMHassanainJHawaryMB. Congenital palmar nail syndrome. J Hand Surg Br. 1997, 22: 674–5.
13.
Al-QattanMMKfouryH. Dorsal dimelia of a thumb. J Plast Reconstr Aesth Surg. 2011, 64: e177–80.
14.
Al-QattanMMShamseldinHEAl-KurayaFS. Familial dorsalization of the skin of the proximal palm and the instep of the sold of the foot. Gene. 2012, 500: 216–9.
15.
Al-QattanMMYangYKozinSH. Embryology of the upper limb. J Hand Surg Am. 2009b, 34: 1340–50.
16.
Al-AwadiSATeebiASFaragTJNaguibKMElKhalifaMY. Profound limb deficiency, thoracic dystrophy, unusual facies and normal intelligence: a new syndrome. J Med Genet. 1985, 22: 36–8.
ChiangCLitingtungYLeeEYoungKECordenJLWestphalHBeachyPA. Cyclopia and defective axial patterning in mice lacking sonic hedgehog gene function. Nature. 1996, 383: 407–13.
19.
EgawaT. Congenital claw-like fingers and toes. Case report of two siblings. Plast Reconstr Surg. 1977, 59: 569–74.
20.
EyaidWAl-QattanMMAl-AbdulkareemIFetainiNAl-BalwiM. Anovel homozygous missense-mutation (C.610G >A, p.Gly 204 Scr) in the WNT7A gene causes tetra-amelia in two Saudi families. Am J Med Genet Part A. 2011, 155: 599–604.
21.
FattahAPickfordMA. Dorsal dimelia in patau syndrome: a case report. J Hand Surg Eur. 2007, 32: 534–6.
22.
GaravelliLWischmeiyerARosatoS. Al-Awadi-Rass-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogenecity and nasological delineation. Am J Med Genet Part A. 2011, 155: 332–6.
23.
GoldfarbGAManskePRBusaRMillJCarterPEzakiM. Upper extremity phocomelia re-examined: a longitudinal dysplasia. J Bone Joint Surg Am. 2005, 87: 2639–48.
24.
KalismanMGoldbergRShipAG. Dorsal skin and fingernail on the volar aspect of the hand: an unusual anatomic deformity. Plast Reconstr Surg. 1982, 69: 694–6.
25.
KantaputraPNMundleSSpirathomsawatW. A novel homozygous Arg 222 TRP missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Med Genet Part A. 2010, 152: 2832–7.
26.
KiryuMHuzitaSSaitonO. Congenital hypoplasia of the little finger associated with nail anomaly. Jpn J Plast Reconstr Surg. 1978, 21: 216–21.
27.
LoomisCAHarrisEMichandJWurstWHanksMJaynerAL. The mouse engrailed-1 gene and ventral limb patterning. Nature. 1996, 382: 360–3.
28.
MuroakaMYoshiokaNHyodoT. A case of double finger nail and ectopic fingernail. Ann Plast Surg. 1996, 36: 201–5.
29.
ObergKCFeenstonJMMarskePRTonkinMA. Developmental biology and classification of congenital anomalies of the hand and upper extremity. J Hand Surg Am. 2010, 35: 2066–76.
30.
OlneyRSHoymeHERoche FergusonKHintzSModanA. Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. Am J Med Genet. 2001, 103: 295–301.
31.
RiddleREnsiniMNelsonCTsuchidaTJesselTMTabinC. Induction of the LIM homeobox gene LmxI by WNT7a establishes dosoventral pattern in the vertebrate limb. Cell. 1995, 83: 631–40.
32.
RiderMA. Congenital palmar nail syndrome. J Hand Surg Br. 1992, 17: 371–2.
33.
ShamseldinHEFadenMAAlashamWAlKurayaFS. Identification of a novel recessive split hand and foot malformation. J Med Genet. 2012, 49: 16–20.
34.
Tytherleigh-StrongGHooperG. The classification of phocomelia. J Hand Surg Br. 2003, 28: 215–7.
35.
VogelARodriguezCWarnkenWIzpisna-BelmonteJC. Dorsal cell fate specified by chick Lmx1 during vertebrate limb development. Nature. 1995, 378: 716–20.
36.
WoodsCGStrickerSSeemanP. Mutations in cause a range of limb malformations, including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet. 2006, 79: 402–8.
