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.
MONDO:0002254
syndromic disease
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MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
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MONDO:0017415
multiple pterygium syndrome
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LMPS
exact
autosomal recessive lethal multiple pterygium syndrome
exact
lethal multiple pterygium syndrome
exact
multiple pterygium syndrome lethal type
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multiple pterygium syndrome, lethal type
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pterygium syndrome multiple lethal type
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