Genetic condition awaiting consideration - Multiple pterygium syndrome Lethal Type LMPS
Multiple pterygium syndrome is a condition that is evident from webbing of the skin (pterygium) at the joints and a lack of muscle movement before birth.
Lethal pterygium syndrome is fatal before birth or very soon after birth.
In lethal multiple pterygium syndrome, affected foetuses may develop a build-up of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe muscle weakness and joint deformities called contractures that restrict the movement of joints.
Further abnormalities may include underdevelopment of the heart, lungs or brain; twisting of the intestines; kidney abnormalities; cleft palate; and an unusually small head size (microcephaly).
Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm).
Lethal multiple pterygium is typically fatal in the second or third trimester of pregnancy. Children can be live-born with this condition but they cannot survive.
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If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email: pgd@hfea.gov.uk
Page last updated: 24 June 2013