HOXD13-Associated Limb Abnormalities

HOXD13-associated limb abnormalities are malformations affecting the hands and feet that occur during neonatal development. Diagnostic features include abnormalities of the hand and foot including synpolydactyly and brachydactyly. Synpolydactyly involves the fusion of the third and fourth fingers of the hand and the fourth and fifth toes in the foot along with a possible inclusion of a supernumerary digit within the syndactylous web. Brachydactyly type D and E involve the shortening of the distal phalanx of the thumb and shortening of the metacarpals, respectively. Other less common phenotypic presentations include syndactyly type V, syndactyly of metacarpals and metatarsals, and a brachydactyly-syndactyly syndrome (Zhao et al., 2007). The clinical presentation of HOXD13-associated limb abnormalities can be present in isolation or as part of various syndromes. Additionally, mutations in the HOXD13 have been reported with synpolydactyly and hypospadias in males (Tuzel et al., 2007).

Tests Available

Forms and Documents

Test Details

HOXD13
  • Confirmation of a clinical diagnosis
  • Risk assessment
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array

Ordering

503
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 755.00 Polydactyly, unspecified digits Supernumerary digits
  • 755.1 Syndactyly Symphalangy Webbing of digits
* For price inquiries please email zebras@genedx.com

References

  1. Goodman FR et al., Proc Natl Acad Sci 8;94(14):7458-63, 1997.
  2. Goodman FR et al., Clin Genet.59(1):1-11. 2001.
  3. Goodman FR et al., Am J. Hum Genet. 70:547-555, 2002.
  4. Johnson D et al., Am J. Hum Genet. 72:984-997, 2003.
  5. Furniss D et al., J Med Genet. 46:730-735, 2009.
  6. Tuzel E et al., Urology. 70(1):161-164, 2007.
  7. Schwabe GC et al., Handchir Mikrochir Plast Chir. 36(2-3):85-97, 2004.
  8. Zhao X et al. Am J Hum Gen 80:361-371, 2007.