Chromosome 2q35 Duplication Syndrome

Alternative Names

  • Syndactyly, Type I
  • SDTY1
  • SD1
  • Zygodactyly
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

185900

Mode of Inheritance

Autosomal dominant

Gene Map Locus

2q34-q36

Description

Syndactyly is a congenital condition, resulting from a failure of fingers to separate into individual appendages during embryonic development. The condition is therefore, characterized by webbing of the toes and/or fingers. At least five different classes of syndactyly have been identified, of which syndactyly I is the most common. The webbing seen in syndactyly I usually is simple, involving only a skin connection between the fingers, but may also sometimes be complex, involving fusion of the distal phalanges. The most commonly affected are the 3rd and 4th fingers.

Syndactyly may also be present as a part of other syndromes like Apert Syndrome, Carpenter's Syndrome, Smith-Lemli-Opitz Syndrome, Pfeiffer Syndrome, or Cornelia de Lange Syndrome. Therefore, presence of syndactyly may have to be followed up by chromosome studies, enzyme assays, metabolic studies, and other diagnostic methods to identify the presence of any syndrome.

Syndactyly type 1 is inherited in an autosomal dominant manner. It is clinically heterogeneous with at least four different subtypes and is caused by duplications on chromosome 2q35.

Molecular Genetics

Subtype II has been mapped to locus 2q34-q36, whereas the rare subtype III has been found to map to the locus 3p21.31.

Epidemiology in the Arab World

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Other Reports

Bahrain

Hamza (2001) undertook a review of medical records of all patients at Salmaniya Medical Complex (1989-1998), in order to identify the incidence of syndactyly in the country. A total of 17 cases of syndactyly were found. However, these were not classified according to their types, or whether they were syndrome related or idiopathic. Based on the data, syndactyly was found to account for 0.71% the total congenital anomalies in Bahrain. The average incidence of syndactyly was found to be 1.7/10,000 births, which is lower than the incidence reported elsewhere.

[Hamza AZY. Incidence of syndactyly in the State of Bahrain. J Bahrain Med Soc. 2001; 3(1):35-6.]

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