Syndactyly type 2

Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly.

Syndactyly

Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\".


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PMID (PMCID)
23948678
 MIXED_SAMPLE
A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.
Zhou X, Zheng C, He B, Zhu Z, Li P, He X, Zhu S, Yang C, Lao Z, Zhu Q, Liu X.
Bone. 2013;57(1):237-41.
Human synpolydactyly (SPD), belonging to syndactyly (SD) II, is caused by mutations in homeobox d13 (HOXD13).
22406499
 MIXED_SAMPLE Infant
Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.
Xin Q, Li L, Li J, Qiu R, Guo C, Gong Y, Liu Q.
Gene. 2012;499(1):48-51.
Human synpolydactyly (SPD), belonging to syndactyly (SD) II, is an inherited autosomal-dominant limb malformation characterized by SD of finger 3 or 4 or toe 4 or 5, usually with digit duplication.
16139401
 MIXED_SAMPLE Infant
Expression of familial middle-ring-little finger syndactyly as either simple syndactyly or synpolydactyly.
Al-Qattan MM.
J Hand Surg Br. 2006;31(1):118-20.
Expression of familial middle-ring-little finger syndactyly as either simple syndactyly or synpolydactyly.
16139401
 MIXED_SAMPLE Infant
Expression of familial middle-ring-little finger syndactyly as either simple syndactyly or synpolydactyly.
Al-Qattan MM.
J Hand Surg Br. 2006;31(1):118-20.
A family with middle-ring-little finger syndactyly is reported to demonstrate that the responsible autosomal gene may be expressed as either simple syndactyly or synpolydactyly.
12900906
 MALE
An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.
Kan SH, Johnson D, Giele H, Wilkie AO.
Am J Med Genet A. 2003;121A(1):69-74.
Heterozygous expansions of a polyalanine tract in HOXD13 are typically associated with synpolydactyly characterized by insertional digit duplication associated with syndactyly.
10364522
 MALE Infant, Newborn
Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster.
Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W.
Am J Hum Genet. 1999;65(1):104-10.
In humans, mutations in HOXD13 have been associated with type II syndactyly or synpolydactyly, and, in HOXA13, with hand-foot-genital syndrome.
9577020
 MIXED_SAMPLE Child
[Poland's syndrome. A report of 38 cases].
Minguella-Sola J, Cabrera-Gonzalez M.
An Esp Pediatr. 1998;48(2):143-7.
The patients were classified into 5 types: Type 1, without syndactyly; type 2 syndactyly and hypoplastic or aplastic middle phalanx; type 3 or "shovel hand" with complete syndactyly also affecting the thumb; type 4 longitudinal deficiency of some digits or radius and type 5 transversal absence.
9577020
 MIXED_SAMPLE Child
[Poland's syndrome. A report of 38 cases].
Minguella-Sola J, Cabrera-Gonzalez M.
An Esp Pediatr. 1998;48(2):143-7.
The patients were classified into 5 types: Type 1, without syndactyly; type 2 syndactyly and hypoplastic or aplastic middle phalanx; type 3 or "shovel hand" with complete syndactyly also affecting the thumb; type 4 longitudinal deficiency of some digits or radius and type 5 transversal absence.
1321548
 FEMALE
Type II syndactyly or synpolydactyly.
De Smet L, Fabry G.
Acta Orthop Belg. 1992;58(2):209-12.
Type II syndactyly or synpolydactyly.
3014149
 MIXED_SAMPLE Infant
Type II syndactyly or synpolydactyly.
Merlob P, Grunebaum M.
J Med Genet. 1986;23(3):237-41.
Type II syndactyly or synpolydactyly.
199388
 MIXED_SAMPLE Adult
A family with syndactyly type II (synpolydactyly).
Ridler MA, Laxova R, Dewhurst K, Saldana-Garcia P.
Clin Genet. 1977;12(4):213-20.
A family with syndactyly type II (synpolydactyly).