syndromic disease lethal multiple pterygium syndrome https://rarediseases.info.nih.gov/diseases/3834/multiple-pterygium-syndrome-lethal-type https://www.malacards.org/card/multiple_pterygium_syndrome_lethal_type_2 autosomal recessive lethal multiple pterygium syndrome OMIM:253290 Orphanet:33108 lethal multiple pterygium syndrome NCIT:C101038 LMPS MEDGEN:381473 pterygium syndrome multiple lethal type 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. multiple pterygium syndrome lethal type ICD9:759.89 multiple pterygium syndrome, lethal type UMLS:C1854678 pterygium syndrome, multiple, lethal type MONDO:0009668 GARD:0003834 SCTID:60192008 multiple congenital anomalies/dysmorphic syndrome-intellectual disability multiple pterygium syndrome