phocomelia

It has been suggested that phocomelia syndrome be merged into this article or section. (Discuss)

Phocomelia
Classification and external resources
A 20-year-old woman with left-sided phocomelia, before and after treatment for scoliosis.
ICD-10	Q73.1
ICD-9	755.2-755.4
DiseasesDB	10020
MeSH	[1]

Phocomelia (from Greek φώκη = "seal"^[1] plus μέλος (plural μέλεα) = "limb") is a congenital disorder involving the limbs (dysmelia). An individual exhibiting phocomelia may be referred to as a phocomelus.

Presentation

It presents at birth very short or absent long bones and flipper-like appearance of hands and sometimes feet. Amphibian deformities often take the form of phocomelia, in which the limbs are shortened due to lack or malformation of long bones, as opposed to other forms of dysmelia such as amelia, which is characterized by the complete lack of a limb, or polymelia, the presence of extra limbs, which are often fused together.

Causes

The condition may be inherited or occurs sporadically. It is also connected with prenatal exposure to the anti-nausea drug thalidomide. In Holt-Oram syndrome, the most severe forms manifest with phocomelia with rudimentary limbs.

Notable cases

Famous phocomelic people include Stanley Berent, also known as "Sealo The Seal Boy" (who made his living from performing/being exhibited in "freak shows") and, more currently, actor Mat Fraser, opera singer Thomas Quasthoff, guitarist Rick Renstrom and artist Alison Lapper. Marc Quinn's 15-foot (4.6 m)-high nude sculpture, Alison Lapper Pregnant, was shown on the formerly-vacant fourth plinth in Trafalgar Square. Hee Ah Lee is a pianist with only two fingers on each hand.

References

1. ^ Seal, Georg Autenrieth, A Homeric Dictionary.

External links

• Phocomelia at GPnotebook