Phocomelia is an extremely rare congenital skeletal disorder that characteristically affects the limbs. It can affect either the upper limbs or lower limbs or both. Phocomelia is also a descriptive term to describe the characteristic limb anomalies occurring with its associated conditions.
It characteristically manifests as a deficiency or shortening of the proximal to mid portions of the limbs.
Phocomelia can occur sporadically. However recognised associations include
- thalidomide embryopathy: most common cause of historically
- Roberts syndrome
- TAR syndrome 4
- Grebe syndrome
- DK phocomelia / von Voss-Cherstvoy syndrome
- Schinzel-phocomelia syndrome 5
Classically with upper limb involvement, the hands are present, but with variable deficiency and or foreshortening of the arm and/or forearm. The hands may be normal or abnormal on morphology.
History and etymology
Derived from the Greek words phoco meaning seal and melia meaning limb.
- 1. Kenny S. Phocomelia--three cases. Br J Radiol. 1962;35 : 462-7. - Pubmed citation
- 2. Rypens F, Dubois J, Garel L et-al. Obstetric US: watch the fetal hands. Radiographics. 26 (3): 811-29. doi:10.1148/rg.263055113 - Pubmed citation
- 3. Schumacher R, Seaver LH, Spranger J. Fetal Radiology, A Diagnostic Atlas. Springer Verlag. (2011) ISBN:3642035590. Read it at Google Books - Find it at Amazon
- 4. Lee A, Kratochwil A, Deutinger J et-al. Three-dimensional ultrasound in diagnosing phocomelia. Ultrasound Obstet Gynecol. 1995;5 (4): 238-40. doi:10.1046/j.1469-0705.1995.05040238.x - Pubmed citation
- 5. Chitayat D, Stalker HJ, Vekemans M et-al. Phocomelia, oligodactyly, and acrania: the Schinzel-Phocomelia syndrome. Am. J. Med. Genet. 1993;45 (3): 297-9. doi:10.1002/ajmg.1320450304 - Pubmed citation
- 6. Trombly JF, Sergeant S, Yeomans ER et-al. Diagnosis of phocomelia by transvaginal sonography. J Ultrasound Med. 1992;11 (6): 309-11. J Ultrasound Med (citation) - Pubmed citation