multiple pterygium syndrome
- multiple pterygium syndrome
- 2. an autosomal recessive syndrome caused by mutations in the CHRNG gene (locus: 2q33-q34), which encodes an acetylcholine receptor subunit. It is characterized by pterygia of the neck, axillae, and popliteal, antecubital, and intercrural areas, accompanied by hypertelorism, cleft palate, micrognathia, ptosis of eyelids, and short stature. Skeletal abnormalities include camptodactyly, syndactyly, equinovarus, and rocker-bottom feet, as well as vertebral fusion and rib anomalies. Cryptorchidism is present in males and labia majora are absent in females. Called also Escobar s. and pterygium s. Cf. lethal multiple pterygium s. an autosomal dominant syndrome that in its most severe forms resembles the recessive disorder; milder cases may present with contractures of the extremities and ptosis. Called also distal arthrogryposis type 8.
Medical dictionary.
2011.
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Multiple pterygium syndrome — is a cutaneous condition inherited in an autosomal dominant fashion.[1] See also Popliteal pterygium syndrome List of cutaneous conditions References ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2 Volume Set. St … Wikipedia
pterygium syndrome — multiple pterygium s … Medical dictionary
lethal multiple pterygium syndrome — a lethal autosomal recessive disorder caused by mutations in any of several genes that encode acetylcholine receptor components, characterized by multiple pterygia, lung hypoplasia, flexion contractures of the limbs, characteristic facies, and… … Medical dictionary
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Escobar syndrome — multiple pterygium s. (def. 1) … Medical dictionary
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