Lethal multiple pterygium syndrome

Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.

Also known as: LMPS, autosomal recessive lethal multiple pterygium syndrome, lethal multiple pterygium syndrome, multiple pterygium syndrome lethal type, multiple pterygium syndrome, lethal type, pterygium syndrome multiple lethal type, pterygium syndrome, multiple, lethal type

1 clinical trial for this condition and its sub-types, 0 tagged with Lethal multiple pterygium syndrome itself.